sujigwak/NVAR huggingface dataset:
UniProt ID: P15358
Variant: G -> E at position 47-47
Protein function: This highly disulfide-bonded protein is a potent inhibitor of factor Xa. May have therapeutic utility as an anticoagulant. Also exhibits a strong metastatic activity.
Reference sequence:
MIKLAILLLFTVAIVRCQGPFGPGCEEAGCPEGSACNIITDRCTCSGVRCRMHCPHGFQRSRYGCEFCKCRLEPMKATCDISECPEGMMCSRLTNKCDCKIDINCRKTCPNGLKRDKLGCEYCECRPKRKLIPRLS
UniProt ID: P15358
Variant: M -> V at position 52-52
Protein function: This highly disulfide-bonded protein is a potent inhibitor of factor Xa. May have therapeutic utility as an anticoagulant. Also exhibits a strong metastatic activity.
Reference sequence:
MIKLAILLLFTVAIVRCQGPFGPGCEEAGCPEGSACNIITDRCTCSGVRCRMHCPHGFQRSRYGCEFCKCRLEPMKATCDISECPEGMMCSRLTNKCDCKIDINCRKTCPNGLKRDKLGCEYCECRPKRKLIPRLS
UniProt ID: P15358
Variant: R -> I at position 71-71
Protein function: This highly disulfide-bonded protein is a potent inhibitor of factor Xa. May have therapeutic utility as an anticoagulant. Also exhibits a strong metastatic activity.
Reference sequence:
MIKLAILLLFTVAIVRCQGPFGPGCEEAGCPEGSACNIITDRCTCSGVRCRMHCPHGFQRSRYGCEFCKCRLEPMKATCDISECPEGMMCSRLTNKCDCKIDINCRKTCPNGLKRDKLGCEYCECRPKRKLIPRLS
UniProt ID: P15393
Variant: R -> C at position 127-127
Variant annotation: in strain: Dahl salt-resistant
Protein function: A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Reference sequence:
MALRVTADVWLARPWQCLHRTRALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQENLHLEMHQAFQELGPIFRHSAGGAQIVSVMLPEDAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGADWRFNRLQLNPNMLSPKAIQSFVPFVDVVARDFVENLKKRMLENVHGSMSINIQSNMFNYTMEASHFVISGERLGLTGHDLKPESVTFTHALHSMFKSTTQLMFLPKSLTRWTSTRVWKEHFDSWDIISEYVTKCIKNVYRELAEGRQQSWSVISEMVAQSTLSMDAIHANSMELIAGSVDTTAISLVMTLFELARNPDVQQALRQESLAAEASIVANPQKAMSDLPLLRAALKETLRLYPVGSFVERIVHSDLVLQNYHVPAGTFVIIYLYSMGRNPAVFPRPERYMPQRWLERKRSFQHLAFGFGVRQCLGRRLAEVEMLLLLHHMLKTFQVETLRQEDMQMVFRFLLMPSSSPFLTFRPVS
UniProt ID: P15393
Variant: V -> A at position 351-351
Variant annotation: in strain: Dahl salt-resistant
Protein function: A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Reference sequence:
MALRVTADVWLARPWQCLHRTRALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQENLHLEMHQAFQELGPIFRHSAGGAQIVSVMLPEDAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGADWRFNRLQLNPNMLSPKAIQSFVPFVDVVARDFVENLKKRMLENVHGSMSINIQSNMFNYTMEASHFVISGERLGLTGHDLKPESVTFTHALHSMFKSTTQLMFLPKSLTRWTSTRVWKEHFDSWDIISEYVTKCIKNVYRELAEGRQQSWSVISEMVAQSTLSMDAIHANSMELIAGSVDTTAISLVMTLFELARNPDVQQALRQESLAAEASIVANPQKAMSDLPLLRAALKETLRLYPVGSFVERIVHSDLVLQNYHVPAGTFVIIYLYSMGRNPAVFPRPERYMPQRWLERKRSFQHLAFGFGVRQCLGRRLAEVEMLLLLHHMLKTFQVETLRQEDMQMVFRFLLMPSSSPFLTFRPVS
UniProt ID: P15393
Variant: V -> L at position 381-381
Variant annotation: in strain: Dahl salt-resistant
Protein function: A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Reference sequence:
MALRVTADVWLARPWQCLHRTRALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQENLHLEMHQAFQELGPIFRHSAGGAQIVSVMLPEDAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGADWRFNRLQLNPNMLSPKAIQSFVPFVDVVARDFVENLKKRMLENVHGSMSINIQSNMFNYTMEASHFVISGERLGLTGHDLKPESVTFTHALHSMFKSTTQLMFLPKSLTRWTSTRVWKEHFDSWDIISEYVTKCIKNVYRELAEGRQQSWSVISEMVAQSTLSMDAIHANSMELIAGSVDTTAISLVMTLFELARNPDVQQALRQESLAAEASIVANPQKAMSDLPLLRAALKETLRLYPVGSFVERIVHSDLVLQNYHVPAGTFVIIYLYSMGRNPAVFPRPERYMPQRWLERKRSFQHLAFGFGVRQCLGRRLAEVEMLLLLHHMLKTFQVETLRQEDMQMVFRFLLMPSSSPFLTFRPVS
UniProt ID: P15393
Variant: I -> L at position 384-384
Variant annotation: in strain: Dahl salt-resistant
Protein function: A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Reference sequence:
MALRVTADVWLARPWQCLHRTRALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQENLHLEMHQAFQELGPIFRHSAGGAQIVSVMLPEDAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGADWRFNRLQLNPNMLSPKAIQSFVPFVDVVARDFVENLKKRMLENVHGSMSINIQSNMFNYTMEASHFVISGERLGLTGHDLKPESVTFTHALHSMFKSTTQLMFLPKSLTRWTSTRVWKEHFDSWDIISEYVTKCIKNVYRELAEGRQQSWSVISEMVAQSTLSMDAIHANSMELIAGSVDTTAISLVMTLFELARNPDVQQALRQESLAAEASIVANPQKAMSDLPLLRAALKETLRLYPVGSFVERIVHSDLVLQNYHVPAGTFVIIYLYSMGRNPAVFPRPERYMPQRWLERKRSFQHLAFGFGVRQCLGRRLAEVEMLLLLHHMLKTFQVETLRQEDMQMVFRFLLMPSSSPFLTFRPVS
UniProt ID: P15393
Variant: V -> M at position 443-443
Variant annotation: in strain: Dahl salt-resistant
Protein function: A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Reference sequence:
MALRVTADVWLARPWQCLHRTRALGTTAKVAPKTLKPFEAIPQYSRNKWLKMIQILREQGQENLHLEMHQAFQELGPIFRHSAGGAQIVSVMLPEDAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGADWRFNRLQLNPNMLSPKAIQSFVPFVDVVARDFVENLKKRMLENVHGSMSINIQSNMFNYTMEASHFVISGERLGLTGHDLKPESVTFTHALHSMFKSTTQLMFLPKSLTRWTSTRVWKEHFDSWDIISEYVTKCIKNVYRELAEGRQQSWSVISEMVAQSTLSMDAIHANSMELIAGSVDTTAISLVMTLFELARNPDVQQALRQESLAAEASIVANPQKAMSDLPLLRAALKETLRLYPVGSFVERIVHSDLVLQNYHVPAGTFVIIYLYSMGRNPAVFPRPERYMPQRWLERKRSFQHLAFGFGVRQCLGRRLAEVEMLLLLHHMLKTFQVETLRQEDMQMVFRFLLMPSSSPFLTFRPVS
UniProt ID: P15448
Variant: A -> V at position 34-34
Protein function: Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1. Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling.
Reference sequence:
VLSPSDKANVKATWDKIGGHAGEYGGEALERTFASFPTTKTYFPHFDLSPGSAQVKAHGKKVADALTNAVAHGDDLPMALSTLSDLHAYKLRVDPVNFKLLSHCLLVTLACHHPAEFTPAVHASLDKFFSTVSTVLTSKYR
UniProt ID: P15450
Variant: G -> S at position 52-52
Protein function: This peptide has bactericidal activity.
Reference sequence:
MKVVIFIFALLATICAAFAYVPLPNVPQPGRRPFPTFPGQGPFNPKIKWPQGY
UniProt ID: P15494
Variant: F -> L at position 63-63
Protein function: May be a general steroid carrier protein.
Reference sequence:
MGVFNYETETTSVIPAARLFKAFILDGDNLFPKVAPQAISSVENIEGNGGPGTIKKISFPEGFPFKYVKDRVDEVDHTNFKYNYSVIEGGPIGDTLEKISNEIKIVATPDGGSILKISNKYHTKGDHEVKAEQVKASKEMGETLLRAVESYLLAHSDAYN
UniProt ID: P15500
Variant: R -> T at position 22-22
Protein function: Prevents juvenile hormone from being hydrolyzed by general esterases by combining with it specifically.
Reference sequence:
VLSDQGALFEPCSTQDIACLSRATQQFLEKACRGVPEYDIRPIDPLIISSLDVAAYDDIGLIFHFKNLNITGLKNQKISDFRMDTTRKSVLLKTQADLNVVADVVIELSKQSKSFAGVMNIQASIIGGAKYSYDLQDDSKGVKHFEVGQETISCESIGEPAVNLNPELADALLKDPDTTHYRKDYEAHRVSIRQRSLCKIVELCYVDVVHNIRAVAKILPSTAFFTDVN
UniProt ID: P15500
Variant: E -> D at position 29-29
Protein function: Prevents juvenile hormone from being hydrolyzed by general esterases by combining with it specifically.
Reference sequence:
VLSDQGALFEPCSTQDIACLSRATQQFLEKACRGVPEYDIRPIDPLIISSLDVAAYDDIGLIFHFKNLNITGLKNQKISDFRMDTTRKSVLLKTQADLNVVADVVIELSKQSKSFAGVMNIQASIIGGAKYSYDLQDDSKGVKHFEVGQETISCESIGEPAVNLNPELADALLKDPDTTHYRKDYEAHRVSIRQRSLCKIVELCYVDVVHNIRAVAKILPSTAFFTDVN
UniProt ID: P15500
Variant: EY -> NI at position 37-38
Protein function: Prevents juvenile hormone from being hydrolyzed by general esterases by combining with it specifically.
Reference sequence:
VLSDQGALFEPCSTQDIACLSRATQQFLEKACRGVPEYDIRPIDPLIISSLDVAAYDDIGLIFHFKNLNITGLKNQKISDFRMDTTRKSVLLKTQADLNVVADVVIELSKQSKSFAGVMNIQASIIGGAKYSYDLQDDSKGVKHFEVGQETISCESIGEPAVNLNPELADALLKDPDTTHYRKDYEAHRVSIRQRSLCKIVELCYVDVVHNIRAVAKILPSTAFFTDVN
UniProt ID: P15509
Variant: G -> R at position 196-196
Variant annotation: in SMDP4; dbSNP:rs137852353
Protein function: Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.
Reference sequence:
MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT
UniProt ID: P15513
Variant: S -> L at position 362-362
Protein function: Exogenous application of myomodulins potentiates ARC muscle contraction.
Reference sequence:
MQVYMLLPLAVFASLTYQGACEETAAAQTSSDASTSSASSEHAENELSRAKRGSYRMMRLGRGLHMLRLGKRGGPVEPESEENLETLLNLLQGYYSDVPEYPSEFDDTDLAYPYEEYDAPAHPRYRRSTPPTDGVVAPDVLQKGSSEFEDFGDSQLDESDEGYYGYDPENYLYGDFEDYLEPEEGGLGEEKRSLSMLRLGKRGLSMLRLGKREGEEGDEMDKKQDESLNDDFENDDIKRTLSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRPMSMLRLGKRDDDEKEKKSLNMSRLGKRSTQ
UniProt ID: P15514
Variant: D -> V at position 80-80
Variant annotation: in dbSNP:rs373527160
Protein function: Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.
Reference sequence:
MRAPLLPPAPVVLSLLILGSGHYAAGLDLNDTYSGKREPFSGDHSADGFEVTSRSEMSSGSEISPVSEMPSSSEPSSGADYDYSEEYDNEPQIPGYIVDDSVRVEQVVKPPQNKTESENTSDKPKRKKKGGKNGKNRRNRKKKNPCNAEFQNFCIHGECKYIEHLEAVTCKCQQEYFGERCGEKSMKTHSMIDSSLSKIALAAIAAFMSAVILTAVAVITVQLRRQYVRKYEGEAEERKKLRQENGNVHAIA
UniProt ID: P15514
Variant: Y -> C at position 81-81
Variant annotation: in dbSNP:rs28364979
Protein function: Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.
Reference sequence:
MRAPLLPPAPVVLSLLILGSGHYAAGLDLNDTYSGKREPFSGDHSADGFEVTSRSEMSSGSEISPVSEMPSSSEPSSGADYDYSEEYDNEPQIPGYIVDDSVRVEQVVKPPQNKTESENTSDKPKRKKKGGKNGKNRRNRKKKNPCNAEFQNFCIHGECKYIEHLEAVTCKCQQEYFGERCGEKSMKTHSMIDSSLSKIALAAIAAFMSAVILTAVAVITVQLRRQYVRKYEGEAEERKKLRQENGNVHAIA
UniProt ID: P15516
Variant: R -> Q at position 41-41
Variant annotation: in histatin-3-2; loss of the proteolytic cleavage site; dbSNP:rs1136511
Effect: loss
Target: the proteolytic cleavage site
Protein function: Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is especially effective against C.albicans and C.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis. In addition, His3-(20-43)-peptide is a potent inhibitor of metalloproteinases MMP2 and MMP9.
Reference sequence:
MKFFVFALILALMLSMTGADSHAKRHHGYKRKFHEKHHSHRGYRSNYLYDN
UniProt ID: P15529
Variant: S -> F at position 13-13
Variant annotation: in dbSNP:rs138843816
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: C -> Y at position 35-35
Variant annotation: in AHUS2; dbSNP:rs121909591
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: R -> Q at position 59-59
Variant annotation: in dbSNP:rs780693519
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: P -> S at position 165-165
Variant annotation: in AHUS2; reduced cell surface expression; dbSNP:rs759136081
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: W -> C at position 216-216
Variant annotation: in AHUS2; dbSNP:rs1656197837
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: C -> Y at position 228-228
Variant annotation: in a colorectal cancer sample; somatic mutation
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: P -> R at position 231-231
Variant annotation: in AHUS2; dbSNP:rs1271761432
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: S -> P at position 240-240
Variant annotation: in AHUS2; no change in cell surface expression but reduced activity; dbSNP:rs121909589
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: D -> N at position 266-266
Variant annotation: in dbSNP:rs17006830
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: P -> L at position 324-324
Variant annotation: in dbSNP:rs41317833
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: A -> V at position 353-353
Variant annotation: in dbSNP:rs35366573
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15529
Variant: V -> G at position 355-355
Protein function: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes .
Reference sequence:
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL
UniProt ID: P15531
Variant: S -> G at position 120-120
Variant annotation: in a neuroblastoma sample; increased motility of carcinoma cells; dbSNP:rs121917887
Protein function: Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. During GZMA-mediated cell death, works in concert with TREX1. NME1 nicks one strand of DNA and TREX1 removes bases from the free 3' end to enhance DNA damage and prevent DNA end reannealing and rapid repair.
Reference sequence:
MANCERTFIAIKPDGVQRGLVGEIIKRFEQKGFRLVGLKFMQASEDLLKEHYVDLKDRPFFAGLVKYMHSGPVVAMVWEGLNVVKTGRVMLGETNPADSKPGTIRGDFCIQVGRNIIHGSDSVESAEKEIGLWFHPEELVDYTSCAQNWIYE
UniProt ID: P15621
Variant: G -> A at position 92-92
Variant annotation: in dbSNP:rs11882046
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MALCYGTFWGYPKMLEAANLMEGLVDIGPWVTLPRGQPEVLEWGLPKDQDSVAFEDVAVNFTHEEWALLGPSQKNLYRDVMRETIRNLNCIGMKWENQNIDDQHQNLRRNPRCDVVERFGKSKDGSQCGETLSQIRNSIVNKNTPARVDACGSSVNGEVIMGHSSLNCYIRVDTGHKHRECHEYAEKSYTHKQCGKGLSYRHSFQTCERPHTGKKPYDCKECGKTFSSPGNLRRHMVVKGGDGPYKCELCGKAFFWPSLLRMHERTHTGEKPYECKQCSKAFPVYSSYLRHEKIHTGEKPYECKQCSKAFPDYSSYLRHERTHTGEKPYKCKQCGKAFSVSGSLRVHERIHTGEKPYTCKQCGKAFCHLGSFQRHMIMHSGDGPHKCKICGKGFDFPGSARIHEGTHTLEKPYECKQCGKLLSHRSSFRRHMMAHTGDGPHKCTVCGKAFDSPSVFQRHERTHTGEKPYECKQCGKAFRTSSSLRKHETTHTGEQPYKCKCGKAFSDLFSFQSHETTHSEEEPYECKECGKAFSSFKYFCRHERTHSEEKSYECQICGKAFSRFSYLKTHERTHTAEKPYECKQCRKAFFWPSFLLRHERTHTGERPYECKHCGKAFSRSSFCREHERTHTGEKPYECKECGKAFSSLSSFNRHKRTHWKDIL
UniProt ID: P15621
Variant: T -> A at position 212-212
Variant annotation: in dbSNP:rs11879168
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MALCYGTFWGYPKMLEAANLMEGLVDIGPWVTLPRGQPEVLEWGLPKDQDSVAFEDVAVNFTHEEWALLGPSQKNLYRDVMRETIRNLNCIGMKWENQNIDDQHQNLRRNPRCDVVERFGKSKDGSQCGETLSQIRNSIVNKNTPARVDACGSSVNGEVIMGHSSLNCYIRVDTGHKHRECHEYAEKSYTHKQCGKGLSYRHSFQTCERPHTGKKPYDCKECGKTFSSPGNLRRHMVVKGGDGPYKCELCGKAFFWPSLLRMHERTHTGEKPYECKQCSKAFPVYSSYLRHEKIHTGEKPYECKQCSKAFPDYSSYLRHERTHTGEKPYKCKQCGKAFSVSGSLRVHERIHTGEKPYTCKQCGKAFCHLGSFQRHMIMHSGDGPHKCKICGKGFDFPGSARIHEGTHTLEKPYECKQCGKLLSHRSSFRRHMMAHTGDGPHKCTVCGKAFDSPSVFQRHERTHTGEKPYECKQCGKAFRTSSSLRKHETTHTGEQPYKCKCGKAFSDLFSFQSHETTHSEEEPYECKECGKAFSSFKYFCRHERTHSEEKSYECQICGKAFSRFSYLKTHERTHTAEKPYECKQCRKAFFWPSFLLRHERTHTGERPYECKHCGKAFSRSSFCREHERTHTGEKPYECKECGKAFSSLSSFNRHKRTHWKDIL