sujigwak/NVAR huggingface dataset:
UniProt ID: P47871
Variant: A -> V at position 461-461
Variant annotation: no effect on glucagon-elicited cAMP production
Protein function: G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system.
Reference sequence:
MPPCQPQRPLLLLLLLLACQPQVPSAQVMDFLFEKWKLYGDQCHHNLSLLPPPTELVCNRTFDKYSCWPDTPANTTANISCPWYLPWHHKVQHRFVFKRCGPDGQWVRGPRGQPWRDASQCQMDGEEIEVQKEVAKMYSSFQVMYTVGYSLSLGALLLALAILGGLSKLHCTRNAIHANLFASFVLKASSVLVIDGLLRTRYSQKIGDDLSVSTWLSDGAVAGCRVAAVFMQYGIVANYCWLLVEGLYLHNLLGLATLPERSFFSLYLGIGWGAPMLFVVPWAVVKCLFENVQCWTSNDNMGFWWILRFPVFLAILINFFIFVRIVQLLVAKLRARQMHHTDYKFRLAKSTLTLIPLLGVHEVVFAFVTDEHAQGTLRSAKLFFDLFLSSFQGLLVAVLYCFLNKEVQSELRRRWHRWRLGKVLWEERNTSNHRASSSPGHGPPSKELQFGRGGGSQDSSAETPLAGGLPRLAESPF
UniProt ID: P47871
Variant: P -> L at position 476-476
Variant annotation: no effect on glucagon-elicited cAMP production
Protein function: G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system.
Reference sequence:
MPPCQPQRPLLLLLLLLACQPQVPSAQVMDFLFEKWKLYGDQCHHNLSLLPPPTELVCNRTFDKYSCWPDTPANTTANISCPWYLPWHHKVQHRFVFKRCGPDGQWVRGPRGQPWRDASQCQMDGEEIEVQKEVAKMYSSFQVMYTVGYSLSLGALLLALAILGGLSKLHCTRNAIHANLFASFVLKASSVLVIDGLLRTRYSQKIGDDLSVSTWLSDGAVAGCRVAAVFMQYGIVANYCWLLVEGLYLHNLLGLATLPERSFFSLYLGIGWGAPMLFVVPWAVVKCLFENVQCWTSNDNMGFWWILRFPVFLAILINFFIFVRIVQLLVAKLRARQMHHTDYKFRLAKSTLTLIPLLGVHEVVFAFVTDEHAQGTLRSAKLFFDLFLSSFQGLLVAVLYCFLNKEVQSELRRRWHRWRLGKVLWEERNTSNHRASSSPGHGPPSKELQFGRGGGSQDSSAETPLAGGLPRLAESPF
UniProt ID: P47874
Variant: R -> W at position 26-26
Variant annotation: in dbSNP:rs2233546
Protein function: May act as a modulator of the olfactory signal-transduction cascade.
Reference sequence:
MAEDRPQQPQLDMPLVLDQGLTRQMRLRVESLKQRGEKRQDGEKLLQPAESVYRLNFTQQQRLQFERWNVVLDKPGKVTITGTSQNWTPDLTNLMTRQLLDPTAIFWRKEDSDAIDWNEADALEFGERLSDLAKIRKVMYFLVTFGEGVEPANLKASVVFNQL
UniProt ID: P47874
Variant: G -> R at position 36-36
Variant annotation: in dbSNP:rs2233548
Protein function: May act as a modulator of the olfactory signal-transduction cascade.
Reference sequence:
MAEDRPQQPQLDMPLVLDQGLTRQMRLRVESLKQRGEKRQDGEKLLQPAESVYRLNFTQQQRLQFERWNVVLDKPGKVTITGTSQNWTPDLTNLMTRQLLDPTAIFWRKEDSDAIDWNEADALEFGERLSDLAKIRKVMYFLVTFGEGVEPANLKASVVFNQL
UniProt ID: P47883
Variant: I -> V at position 42-42
Variant annotation: in dbSNP:rs9905684
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: S -> R at position 86-86
Variant annotation: in dbSNP:rs9905086
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: E -> Q at position 103-103
Variant annotation: in dbSNP:rs9903671
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: I -> V at position 120-120
Variant annotation: in dbSNP:rs9906179
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: P -> T at position 168-168
Variant annotation: in dbSNP:rs9911226
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: N -> S at position 175-175
Variant annotation: in dbSNP:rs9912090
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: Y -> H at position 181-181
Variant annotation: in dbSNP:rs2855677
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: S -> A at position 193-193
Variant annotation: in dbSNP:rs231678
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: R -> K at position 237-237
Variant annotation: in dbSNP:rs231677
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47883
Variant: V -> I at position 300-300
Variant annotation: in dbSNP:rs8076130
Protein function: Odorant receptor.
Reference sequence:
MDLGNSGNDSVVTKFVLLGLTETAALQPILFVIFLLAYVTTIGGTLSILAAILMETKLHSPMYFFLGNLSLPDVGCVSVTVPAMLSHFISNDRSIPYKACLSELFFFHLLAGADCFLLTIMAYDRYLAICQSLTYSSRMSWGIQQALVGMSCVFSFTNALTQTVALSPLNFCGPNVINHFYCDLPQPFQLSCSSVHLNGQLLFVAAAFMGVAPLVLITVSYAHVAAAVLRIRSAEGRKKAFSTCSSHLTVVGIFYGTGVFSYTRLGSVESSDKDKGIGILNTVISPMLNPLIYWTSLLDVGCISHCSSDAGVSPGPPVQSSLCCLQFTALLSPPPGWGGLSPLNSHGL
UniProt ID: P47888
Variant: L -> F at position 132-132
Variant annotation: in dbSNP:rs769432
Protein function: Odorant receptor.
Reference sequence:
MSLQKLMEPEAGTNRTAVAEFILLGLVQTEEMQPVVFVLLLFAYLVTTGGNLSILAAVLVEPKLHAPMYFFLGNLSVLDVGCITVTVPAMLGRLLSHKSTISYDACLSQLFFFHLLAGMDCFLLTAMAYDRLLAICQPLTYSTRMSQTVQRMLVAASWACAFTNALTHTVAMSTLNFCGPNEVNHFYCDLPQLFQLSCSSTQLNELLLFVAAAFMAVAPLVFISVSYAHVVAAVLQIRSAEGRKKAFSTCGSHLTVVGIFYGTGVFSYMRLGSVESSDKDKGVGVFMTVINPMLNPLIYSLRNTDVQGALCQLLVGKRSLT
UniProt ID: P47888
Variant: W -> L at position 158-158
Variant annotation: in dbSNP:rs916039
Protein function: Odorant receptor.
Reference sequence:
MSLQKLMEPEAGTNRTAVAEFILLGLVQTEEMQPVVFVLLLFAYLVTTGGNLSILAAVLVEPKLHAPMYFFLGNLSVLDVGCITVTVPAMLGRLLSHKSTISYDACLSQLFFFHLLAGMDCFLLTAMAYDRLLAICQPLTYSTRMSQTVQRMLVAASWACAFTNALTHTVAMSTLNFCGPNEVNHFYCDLPQLFQLSCSSTQLNELLLFVAAAFMAVAPLVFISVSYAHVVAAVLQIRSAEGRKKAFSTCGSHLTVVGIFYGTGVFSYMRLGSVESSDKDKGVGVFMTVINPMLNPLIYSLRNTDVQGALCQLLVGKRSLT
UniProt ID: P47888
Variant: M -> V at position 287-287
Variant annotation: in dbSNP:rs12939997
Protein function: Odorant receptor.
Reference sequence:
MSLQKLMEPEAGTNRTAVAEFILLGLVQTEEMQPVVFVLLLFAYLVTTGGNLSILAAVLVEPKLHAPMYFFLGNLSVLDVGCITVTVPAMLGRLLSHKSTISYDACLSQLFFFHLLAGMDCFLLTAMAYDRLLAICQPLTYSTRMSQTVQRMLVAASWACAFTNALTHTVAMSTLNFCGPNEVNHFYCDLPQLFQLSCSSTQLNELLLFVAAAFMAVAPLVFISVSYAHVVAAVLQIRSAEGRKKAFSTCGSHLTVVGIFYGTGVFSYMRLGSVESSDKDKGVGVFMTVINPMLNPLIYSLRNTDVQGALCQLLVGKRSLT
UniProt ID: P47888
Variant: K -> E at position 317-317
Variant annotation: in dbSNP:rs227787
Protein function: Odorant receptor.
Reference sequence:
MSLQKLMEPEAGTNRTAVAEFILLGLVQTEEMQPVVFVLLLFAYLVTTGGNLSILAAVLVEPKLHAPMYFFLGNLSVLDVGCITVTVPAMLGRLLSHKSTISYDACLSQLFFFHLLAGMDCFLLTAMAYDRLLAICQPLTYSTRMSQTVQRMLVAASWACAFTNALTHTVAMSTLNFCGPNEVNHFYCDLPQLFQLSCSSTQLNELLLFVAAAFMAVAPLVFISVSYAHVVAAVLQIRSAEGRKKAFSTCGSHLTVVGIFYGTGVFSYMRLGSVESSDKDKGVGVFMTVINPMLNPLIYSLRNTDVQGALCQLLVGKRSLT
UniProt ID: P47890
Variant: Q -> H at position 88-88
Variant annotation: in dbSNP:rs9892491
Protein function: Odorant receptor.
Reference sequence:
MEGKNLTSISECFLLGFSEQLEEQKPLFGSFLFMYLVTVAGNLLIILVIITDTQLHTPMYFFLANLSLADACFVSTTVPKMLANIQIQSQAISYSGCLLQLYFFMLFVMLEAFLLAVMAYDCYVAICHPLHYILIMSPGLCIFLVSASWIMNALHSLLHTLLMNSLSFCANHEIPHFFCDINPLLSLSCTDPFTNELVIFITGGLTGLICVLCLIISYTNVFSTILKIPSAQGKRKAFSTCSSHLSVVSLFFGTSFCVDFSSPSTHSAQKDTVASVMYTVVTPMLNPFIYSLRNQEIKSSLRKLIWVRKIHSP
UniProt ID: P47893
Variant: L -> V at position 190-190
Variant annotation: in dbSNP:rs9901356
Protein function: Odorant receptor.
Reference sequence:
MSLQKLMEPEAGTNRTAVAEFILLGLVQTEEMQPVVFVLLLFAYLVTTGGNLSILAAVLVEPKLHAPMYFFLGNLSVLDVGCITVTVPAMLGRLLSHKSTISYDACLSQLFFFHLLAGMDCFLLTAMAYDRLLAICQPLTYSTRMSQTVQRMLVAASLACAFTNALTHTVAMSTLNFCGPNEVNHFYCDLPQLFQLSCSSTQLNELLLFAVGFIMAGTPLVLIITAYSHVAAAVLRIRSVEGRKKAFSTCGSHLTVVCLFFGRGIFNYMRLGSEEASDKDKGVGVFNTVINPMLNPLIYSLRNPDVQGALWQIFLGRRSLT
UniProt ID: P47898
Variant: R -> C at position 262-262
Variant annotation: in a colorectal cancer sample; somatic mutation; dbSNP:rs746290830
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins.
Reference sequence:
MDLPVNLTSFSLSTPSPLETNHSLGKDDLRPSSPLLSVFGVLILTLLGFLVAATFAWNLLVLATILRVRTFHRVPHNLVASMAVSDVLVAALVMPLSLVHELSGRRWQLGRRLCQLWIACDVLCCTASIWNVTAIALDRYWSITRHMEYTLRTRKCVSNVMIALTWALSAVISLAPLLFGWGETYSEGSEECQVSREPSYAVFSTVGAFYLPLCVVLFVYWKIYKAAKFRVGSRKTNSVSPISEAVEVKDSAKQPQMVFTVRHATVTFQPEGDTWREQKEQRAALMVGILIGVFVLCWIPFFLTELISPLCSCDIPAIWKSIFLWLGYSNSFFNPLIYTAFNKNYNSAFKNFFSRQH
UniProt ID: P47901
Variant: K -> N at position 65-65
Variant annotation: in dbSNP:rs35369693
Protein function: (Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis.
Reference sequence:
MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF
UniProt ID: P47901
Variant: G -> R at position 191-191
Variant annotation: in dbSNP:rs33990840
Protein function: (Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis.
Reference sequence:
MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF
UniProt ID: P47901
Variant: H -> Q at position 224-224
Variant annotation: in dbSNP:rs3891058
Protein function: (Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis.
Reference sequence:
MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF
UniProt ID: P47901
Variant: S -> G at position 267-267
Variant annotation: in dbSNP:rs36030374
Protein function: (Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis.
Reference sequence:
MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF
UniProt ID: P47901
Variant: R -> H at position 364-364
Variant annotation: in dbSNP:rs28632197
Protein function: (Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis.
Reference sequence:
MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLHLALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQSTYLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHEICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSVQMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSRHTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF
UniProt ID: P47902
Variant: P -> R at position 130-130
Variant annotation: in dbSNP:rs2302275
Protein function: Plays a role in transcriptional regulation . Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells . Binds to the PRKD1 promoter in colorectal cancer (CRC) cells . Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA .
Reference sequence:
MYVGYVLDKDSPVYPGPARPASLGLGPQAYGPPAPPPAPPQYPDFSSYSHVEPAPAPPTAWGAPFPAPKDDWAAAYGPGPAAPAASPASLAFGPPPDFSPVPAPPGPGPGLLAQPLGGPGTPSSPGAQRPTPYEWMRRSVAAGGGGGSGKTRTKDKYRVVYTDHQRLELEKEFHYSRYITIRRKSELAANLGLTERQVKIWFQNRRAKERKVNKKKQQQQQPPQPPMAHDITATPAGPSLGGLCPSNTSLLATSSPMPVKEEFLP
UniProt ID: P47905
Variant: T -> A at position 124-124
Protein function: Ribosomal protein S27a is a component of the 40S subunit of the ribosome.
Reference sequence:
MQIFVKTLTGKTITLEVESSDTIDNVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLADYNIQKESTLHLVLRLRGGAKKRKKKTYTKPKKIKHKHKKVKLAVLQFYKVDDSGKVQRLRKECPNTECGAGTFMANHFDRHYCGKCGKTYVYQKADA
UniProt ID: P47905
Variant: K -> Q at position 146-146
Protein function: Ribosomal protein S27a is a component of the 40S subunit of the ribosome.
Reference sequence:
MQIFVKTLTGKTITLEVESSDTIDNVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLADYNIQKESTLHLVLRLRGGAKKRKKKTYTKPKKIKHKHKKVKLAVLQFYKVDDSGKVQRLRKECPNTECGAGTFMANHFDRHYCGKCGKTYVYQKADA
UniProt ID: P47940
Variant: I -> V at position 67-67
Protein function: May play an important regulatory role in corticotrophs.
Reference sequence:
MQSSLKPAGSGVLQLLVCFLLLYSRPSSCSDINAHDGQGQVGSEQLWTFQGLVASVFQYLQLLFHHIVPQGMFWTDDIAYELMTKKVEHLSRLHPQYPCRKEGKVVSPIATTGVRGKQEEKLRLLSPQKSPAVKVNRDRCFTTKVIPKATKQEVTHPSKGFFGPFPTVGLNLVAD
UniProt ID: P47944
Variant: Y -> C at position 30-30
Variant annotation: in dbSNP:rs666636
Protein function: Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia.
Reference sequence:
MDPRECVCMSGGICMCGDNCKCTTCNCKTYWKSCCPCCPPGCAKCARGCICKGGSDKCSCCP
UniProt ID: P47944
Variant: W -> R at position 31-31
Variant annotation: in dbSNP:rs666647
Protein function: Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia.
Reference sequence:
MDPRECVCMSGGICMCGDNCKCTTCNCKTYWKSCCPCCPPGCAKCARGCICKGGSDKCSCCP
UniProt ID: P47944
Variant: G -> D at position 48-48
Variant annotation: in dbSNP:rs11643815
Protein function: Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia.
Reference sequence:
MDPRECVCMSGGICMCGDNCKCTTCNCKTYWKSCCPCCPPGCAKCARGCICKGGSDKCSCCP
UniProt ID: P47974
Variant: S -> A at position 308-308
Variant annotation: in OZEMA13; uncertain significance; dbSNP:rs373995498
Protein function: Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis . Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery . Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes . Binds to 3'-UTR ARE of numerous mRNAs . Promotes ARE-containing mRNA decay of the low-density lipoprotein (LDL) receptor (LDLR) mRNA in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner . Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Plays a role in mature peripheral neuron integrity by promoting ARE-containing mRNA decay of the transcriptional repressor REST mRNA. Plays a role in ovulation and oocyte meiotic maturation by promoting ARE-mediated mRNA decay of the luteinizing hormone receptor LHCGR mRNA. Acts as a negative regulator of erythroid cell differentiation: promotes glucocorticoid-induced self-renewal of erythroid cells by binding mRNAs that are induced or highly expressed during terminal erythroid differentiation and promotes their degradation, preventing erythroid cell differentiation. In association with ZFP36L1 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination process and functional immune cell formation. Together with ZFP36L1 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA.
Reference sequence:
MSTTLLSAFYDVDFLCKTEKSLANLNLNNMLDKKAVGTPVAAAPSSGFAPGFLRRHSASNLHALAHPAPSPGSCSPKFPGAANGSSCGSAAAGGPTSYGTLKEPSGGGGTALLNKENKFRDRSFSENGDRSQHLLHLQQQQKGGGGSQINSTRYKTELCRPFEESGTCKYGEKCQFAHGFHELRSLTRHPKYKTELCRTFHTIGFCPYGPRCHFIHNADERRPAPSGGASGDLRAFGTRDALHLGFPREPRPKLHHSLSFSGFPSGHHQPPGGLESPLLLDSPTSRTPPPPSCSSASSCSSSASSCSSASAASTPSGAPTCCASAAAAAAAALLYGTGGAEDLLAPGAPCAACSSASCANNAFAFGPELSSLITPLAIQTHNFAAVAAAAYYRSQQQQQQQGLAPPAQPPAPPSATLPAGAAAPPSPPFSFQLPRRLSDSPVFDAPPSPPDSLSDRDSYLSGSLSSGSLSGSESPSLDPGRRLPIFSRLSISDD
UniProt ID: P47985
Variant: S -> A at position 6-6
Variant annotation: in dbSNP:rs8100724
Protein function: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer. One of the fragments, called subunit 9, corresponds to its mitochondrial targeting sequence (MTS). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function.
Reference sequence:
MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLDLKRPFLSRESLSGQAVRRPLVASVGLNVPASVCYSHTDIKVPDFSEYRRLEVLDSTKSSRESSEARKGFSYLVTGVTTVGVAYAAKNAVTQFVSSMSASADVLALAKIEIKLSDIPEGKNMAFKWRGKPLFVRHRTQKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCTHLGCVPIANAGDFGGYYCPCHGSHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG
UniProt ID: P47985
Variant: V -> D at position 14-14
Variant annotation: in MC3DN10; loss of localization to mitochondrial inner membrane; the mutant protein is distributed over the entire cytosol and in the nucleus; dbSNP:rs1568346416
Effect: loss
Target: localization to mitochondrial inner membrane
Protein function: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer. One of the fragments, called subunit 9, corresponds to its mitochondrial targeting sequence (MTS). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function.
Reference sequence:
MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLDLKRPFLSRESLSGQAVRRPLVASVGLNVPASVCYSHTDIKVPDFSEYRRLEVLDSTKSSRESSEARKGFSYLVTGVTTVGVAYAAKNAVTQFVSSMSASADVLALAKIEIKLSDIPEGKNMAFKWRGKPLFVRHRTQKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCTHLGCVPIANAGDFGGYYCPCHGSHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG