sujigwak/NVAR huggingface dataset:
UniProt ID: P01111
Variant: G -> D at position 13-13
Variant annotation: in RALD and JMML; dbSNP:rs121434596
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: G -> R at position 13-13
Variant annotation: in CMNS and colorectal cancer; somatic mutation; dbSNP:rs121434595
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: P -> L at position 34-34
Variant annotation: in KNEN; dbSNP:rs397514553
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: T -> I at position 50-50
Variant annotation: in NS6; hypermorphic mutation; dbSNP:rs267606921
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: G -> E at position 60-60
Variant annotation: in NS6; hypermorphic mutation; dbSNP:rs267606920
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: Q -> K at position 61-61
Variant annotation: in CMNS and NCMS; somatic mutation; dbSNP:rs121913254
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01111
Variant: Q -> R at position 61-61
Variant annotation: in CMNS, NCMS, KNEN and NMTC2; also found in lung carcinoma cell and melanoma; impaired GTP hydrolysis activity, trapping NRAS in a constitutive GTP-bound active conformation; promotes melanomagenesis; promotes interaction with SHOC2 and PP1C; dbSNP:rs11554290
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLVREIRQYRMKKLNSSDDGTQGCMGLPCVVM
UniProt ID: P01112
Variant: G -> A at position 12-12
Variant annotation: in CSTLO; dbSNP:rs104894230
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> C at position 12-12
Variant annotation: in CSTLO; dbSNP:rs104894229
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> D at position 12-12
Variant annotation: in CSTLO; severe mutation; dbSNP:rs104894230
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> E at position 12-12
Variant annotation: in CSTLO
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> S at position 12-12
Variant annotation: in CSTLO and CMEMS; also found in patients with oral squamous cell carcinoma; dbSNP:rs104894229
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> V at position 12-12
Variant annotation: in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; dbSNP:rs104894230
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> C at position 13-13
Variant annotation: in CSTLO; dbSNP:rs104894228
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> D at position 13-13
Variant annotation: in CSTLO; dbSNP:rs104894226
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: G -> R at position 13-13
Variant annotation: in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways; dbSNP:rs104894228
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: Q -> K at position 22-22
Variant annotation: in CMEMS; dbSNP:rs121917757
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: E -> EE at position 37-37
Variant annotation: in CSTLO
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: T -> I at position 58-58
Variant annotation: in CSTLO; dbSNP:rs121917758
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: Q -> K at position 61-61
Variant annotation: in NMTC2; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: Q -> L at position 61-61
Variant annotation: in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines; dbSNP:rs121913233
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: E -> K at position 63-63
Variant annotation: in CMEMS; dbSNP:rs121917756
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: S -> C at position 89-89
Variant annotation: found in a patient with severe fetal hydrops and pleural effusion; uncertain significance; decreased activation of Ras protein signal transduction; dbSNP:rs755322824
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: K -> R at position 117-117
Variant annotation: in CSTLO; dbSNP:rs104894227
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: A -> T at position 146-146
Variant annotation: in CSTLO; dbSNP:rs104894231
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01112
Variant: A -> V at position 146-146
Variant annotation: in CSTLO; dbSNP:rs121917759
Protein function: Involved in the activation of Ras protein signal transduction . Ras proteins bind GDP/GTP and possess intrinsic GTPase activity .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDLAARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPGCMSCKCVLS
UniProt ID: P01116
Variant: K -> E at position 5-5
Variant annotation: in NS3; dbSNP:rs193929331
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: K -> N at position 5-5
Variant annotation: in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein; dbSNP:rs104894361
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> GG at position 10-10
Variant annotation: in AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> A at position 12-12
Variant annotation: in colorectal cancer samples; somatic mutation; dbSNP:rs121913529
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> C at position 12-12
Variant annotation: in lung carcinoma; somatic mutation; also found in metastatic colorectal cancer; dbSNP:rs121913530
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> D at position 12-12
Variant annotation: in GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer; dbSNP:rs121913529
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> R at position 12-12
Variant annotation: in lung cancer and bladder cancer; somatic mutation; dbSNP:rs121913530
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> S at position 12-12
Variant annotation: in GASC and JMML; also found in lung carcinoma; somatic mutation; dbSNP:rs121913530
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> V at position 12-12
Variant annotation: in GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts; promotes GTP binding; dbSNP:rs121913529
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> D at position 13-13
Variant annotation: in GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation; dbSNP:rs112445441
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: G -> R at position 13-13
Variant annotation: in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway; dbSNP:rs121913535
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: V -> I at position 14-14
Variant annotation: in NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state; dbSNP:rs104894365
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: L -> F at position 19-19
Variant annotation: in OES; somatic mutation; dbSNP:rs121913538
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: Q -> E at position 22-22
Variant annotation: in CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors; dbSNP:rs121913236
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: Q -> R at position 22-22
Variant annotation: in NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction; dbSNP:rs727503110
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM
UniProt ID: P01116
Variant: P -> L at position 34-34
Variant annotation: in NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors; dbSNP:rs104894366
Protein function: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity . Plays an important role in the regulation of cell proliferation . Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner .
Reference sequence:
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQYRLKKISKEEKTPGCVKIKKCIIM