sujigwak/NVAR huggingface dataset:
UniProt ID: P32927
Variant: G -> V at position 647-647
Variant annotation: in dbSNP:rs1801115
Protein function: Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA . In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway .
Reference sequence:
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSLHTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSRSLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC
UniProt ID: P32927
Variant: V -> M at position 652-652
Variant annotation: in dbSNP:rs1801114
Protein function: Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA . In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway .
Reference sequence:
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSLHTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSRSLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC
UniProt ID: P32927
Variant: P -> S at position 696-696
Variant annotation: in dbSNP:rs16997517
Protein function: Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA . In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway .
Reference sequence:
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSLHTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSRSLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC
UniProt ID: P32942
Variant: I -> V at position 63-63
Variant annotation: in dbSNP:rs17697947
Protein function: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) . ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages .
Reference sequence:
MATMVPSVLWPRACWTLLVCCLLTPGVQGQEFLLRVEPQNPVLSAGGSLFVNCSTDCPSSEKIALETSLSKELVASGMGWAAFNLSNVTGNSRILCSVYCNGSQITGSSNITVYRLPERVELAPLPPWQPVGQNFTLRCQVEDGSPRTSLTVVLLRWEEELSRQPAVEEPAEVTATVLASRDDHGAPFSCRTELDMQPQGLGLFVNTSAPRQLRTFVLPVTPPRLVAPRFLEVETSWPVDCTLDGLFPASEAQVYLALGDQMLNATVMNHGDTLTATATATARADQEGAREIVCNVTLGGERREARENLTVFSFLGPIVNLSEPTAHEGSTVTVSCMAGARVQVTLDGVPAAAPGQPAQLQLNATESDDGRSFFCSATLEVDGEFLHRNSSVQLRVLYGPKIDRATCPQHLKWKDKTRHVLQCQARGNPYPELRCLKEGSSREVPVGIPFFVNVTHNGTYQCQASSSRGKYTLVVVMDIEAGSSHFVPVFVAVLLTLGVVTIVLALMYVFREHQRSGSYHVREESTYLPLTSMQPTEAMGEEPSRAE
UniProt ID: P32942
Variant: R -> G at position 115-115
Variant annotation: in dbSNP:rs7258015
Protein function: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) . ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages .
Reference sequence:
MATMVPSVLWPRACWTLLVCCLLTPGVQGQEFLLRVEPQNPVLSAGGSLFVNCSTDCPSSEKIALETSLSKELVASGMGWAAFNLSNVTGNSRILCSVYCNGSQITGSSNITVYRLPERVELAPLPPWQPVGQNFTLRCQVEDGSPRTSLTVVLLRWEEELSRQPAVEEPAEVTATVLASRDDHGAPFSCRTELDMQPQGLGLFVNTSAPRQLRTFVLPVTPPRLVAPRFLEVETSWPVDCTLDGLFPASEAQVYLALGDQMLNATVMNHGDTLTATATATARADQEGAREIVCNVTLGGERREARENLTVFSFLGPIVNLSEPTAHEGSTVTVSCMAGARVQVTLDGVPAAAPGQPAQLQLNATESDDGRSFFCSATLEVDGEFLHRNSSVQLRVLYGPKIDRATCPQHLKWKDKTRHVLQCQARGNPYPELRCLKEGSSREVPVGIPFFVNVTHNGTYQCQASSSRGKYTLVVVMDIEAGSSHFVPVFVAVLLTLGVVTIVLALMYVFREHQRSGSYHVREESTYLPLTSMQPTEAMGEEPSRAE
UniProt ID: P32942
Variant: D -> G at position 143-143
Variant annotation: in dbSNP:rs2304237
Protein function: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) . ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages .
Reference sequence:
MATMVPSVLWPRACWTLLVCCLLTPGVQGQEFLLRVEPQNPVLSAGGSLFVNCSTDCPSSEKIALETSLSKELVASGMGWAAFNLSNVTGNSRILCSVYCNGSQITGSSNITVYRLPERVELAPLPPWQPVGQNFTLRCQVEDGSPRTSLTVVLLRWEEELSRQPAVEEPAEVTATVLASRDDHGAPFSCRTELDMQPQGLGLFVNTSAPRQLRTFVLPVTPPRLVAPRFLEVETSWPVDCTLDGLFPASEAQVYLALGDQMLNATVMNHGDTLTATATATARADQEGAREIVCNVTLGGERREARENLTVFSFLGPIVNLSEPTAHEGSTVTVSCMAGARVQVTLDGVPAAAPGQPAQLQLNATESDDGRSFFCSATLEVDGEFLHRNSSVQLRVLYGPKIDRATCPQHLKWKDKTRHVLQCQARGNPYPELRCLKEGSSREVPVGIPFFVNVTHNGTYQCQASSSRGKYTLVVVMDIEAGSSHFVPVFVAVLLTLGVVTIVLALMYVFREHQRSGSYHVREESTYLPLTSMQPTEAMGEEPSRAE
UniProt ID: P32942
Variant: S -> T at position 525-525
Variant annotation: in dbSNP:rs2230399
Protein function: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) . ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages .
Reference sequence:
MATMVPSVLWPRACWTLLVCCLLTPGVQGQEFLLRVEPQNPVLSAGGSLFVNCSTDCPSSEKIALETSLSKELVASGMGWAAFNLSNVTGNSRILCSVYCNGSQITGSSNITVYRLPERVELAPLPPWQPVGQNFTLRCQVEDGSPRTSLTVVLLRWEEELSRQPAVEEPAEVTATVLASRDDHGAPFSCRTELDMQPQGLGLFVNTSAPRQLRTFVLPVTPPRLVAPRFLEVETSWPVDCTLDGLFPASEAQVYLALGDQMLNATVMNHGDTLTATATATARADQEGAREIVCNVTLGGERREARENLTVFSFLGPIVNLSEPTAHEGSTVTVSCMAGARVQVTLDGVPAAAPGQPAQLQLNATESDDGRSFFCSATLEVDGEFLHRNSSVQLRVLYGPKIDRATCPQHLKWKDKTRHVLQCQARGNPYPELRCLKEGSSREVPVGIPFFVNVTHNGTYQCQASSSRGKYTLVVVMDIEAGSSHFVPVFVAVLLTLGVVTIVLALMYVFREHQRSGSYHVREESTYLPLTSMQPTEAMGEEPSRAE
UniProt ID: P32967
Variant: P -> L at position 90-90
Variant annotation: in the spontaneous pleiotropic mutant BL915-1
Protein function: Member of the two-component regulatory system GacA/GacS which controls the expression of secondary metabolites and extracellular products. Acts (probably primarily) by activating expression of CsrA1 and CsrA2 antagonist small RNAs (sRNA) RsmX, RsmY and RsmZ which bind to and prevent translation repression by CsrA1 and CsrA2 . Involved in the regulation of secondary metabolism and in the synthesis of the antifungal factors cyanide, 2,4-diacetylphloroglucinol and pyoluteorin . Involved in synthesis of the autoinducing signal (unrelated to N-acylhomoserine lactones, induces the Gac/Csr cascade) . Exercises positive post-transcriptional control over the hcnABC and aprA genes; acts upstream of CsrA2 (rsmA) . Controls expression of csrA1 (rsmE) and csrA2 .
Reference sequence:
MIRVLVVDDHDLVRTGITRMLADIDGLQVVGQAESGEESLLKARELKPYVVLMDVKMPGIGGLEATRKLLRSHPDIKVVAVTVCEEDPFPTRLLQAGAAGYLTKGAGLNEMVQAIRLVFAGQRYISPQIAQQLVFKSFQPSSDSPFDALSEREIQIALMIVGCQKVQIISDKLCLSPKTVNTYRYRIFEKLSISSDVELTLLAVRHGMVDASL
UniProt ID: P32967
Variant: T -> I at position 182-182
Variant annotation: in the spontaneous pleiotropic mutant BL915-2
Protein function: Member of the two-component regulatory system GacA/GacS which controls the expression of secondary metabolites and extracellular products. Acts (probably primarily) by activating expression of CsrA1 and CsrA2 antagonist small RNAs (sRNA) RsmX, RsmY and RsmZ which bind to and prevent translation repression by CsrA1 and CsrA2 . Involved in the regulation of secondary metabolism and in the synthesis of the antifungal factors cyanide, 2,4-diacetylphloroglucinol and pyoluteorin . Involved in synthesis of the autoinducing signal (unrelated to N-acylhomoserine lactones, induces the Gac/Csr cascade) . Exercises positive post-transcriptional control over the hcnABC and aprA genes; acts upstream of CsrA2 (rsmA) . Controls expression of csrA1 (rsmE) and csrA2 .
Reference sequence:
MIRVLVVDDHDLVRTGITRMLADIDGLQVVGQAESGEESLLKARELKPYVVLMDVKMPGIGGLEATRKLLRSHPDIKVVAVTVCEEDPFPTRLLQAGAAGYLTKGAGLNEMVQAIRLVFAGQRYISPQIAQQLVFKSFQPSSDSPFDALSEREIQIALMIVGCQKVQIISDKLCLSPKTVNTYRYRIFEKLSISSDVELTLLAVRHGMVDASL
UniProt ID: P33049
Variant: V -> I at position 22-22
Variant annotation: in allele F
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKFFIFTCLLAVALAKHKMEHVSSSEEPINIFQEIYKQEKNMAIHPRKEKLCTTSCEEVVRNANEEEYSIRSSSEESAEVAPEEIKITVDDKHYQKALNEINQFYQKFPQYLQYPYQGPIVLNPWDQVKRNAGPFTPTVNREQLSTSEENSKKTIDMESTEVFTKKTKLTEEEKNRLNFLKKISQYYQKFAWPQYLKTVDQHQKAMKPWTQPKTNAIPYVRYL
UniProt ID: P33049
Variant: E -> K at position 79-79
Variant annotation: in allele B
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKFFIFTCLLAVALAKHKMEHVSSSEEPINIFQEIYKQEKNMAIHPRKEKLCTTSCEEVVRNANEEEYSIRSSSEESAEVAPEEIKITVDDKHYQKALNEINQFYQKFPQYLQYPYQGPIVLNPWDQVKRNAGPFTPTVNREQLSTSEENSKKTIDMESTEVFTKKTKLTEEEKNRLNFLKKISQYYQKFAWPQYLKTVDQHQKAMKPWTQPKTNAIPYVRYL
UniProt ID: P33049
Variant: E -> K at position 161-161
Variant annotation: in allele 0
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKFFIFTCLLAVALAKHKMEHVSSSEEPINIFQEIYKQEKNMAIHPRKEKLCTTSCEEVVRNANEEEYSIRSSSEESAEVAPEEIKITVDDKHYQKALNEINQFYQKFPQYLQYPYQGPIVLNPWDQVKRNAGPFTPTVNREQLSTSEENSKKTIDMESTEVFTKKTKLTEEEKNRLNFLKKISQYYQKFAWPQYLKTVDQHQKAMKPWTQPKTNAIPYVRYL
UniProt ID: P33049
Variant: K -> I at position 182-182
Variant annotation: in allele C and allele E
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKFFIFTCLLAVALAKHKMEHVSSSEEPINIFQEIYKQEKNMAIHPRKEKLCTTSCEEVVRNANEEEYSIRSSSEESAEVAPEEIKITVDDKHYQKALNEINQFYQKFPQYLQYPYQGPIVLNPWDQVKRNAGPFTPTVNREQLSTSEENSKKTIDMESTEVFTKKTKLTEEEKNRLNFLKKISQYYQKFAWPQYLKTVDQHQKAMKPWTQPKTNAIPYVRYL
UniProt ID: P33049
Variant: P -> R at position 208-208
Variant annotation: in allele E
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKFFIFTCLLAVALAKHKMEHVSSSEEPINIFQEIYKQEKNMAIHPRKEKLCTTSCEEVVRNANEEEYSIRSSSEESAEVAPEEIKITVDDKHYQKALNEINQFYQKFPQYLQYPYQGPIVLNPWDQVKRNAGPFTPTVNREQLSTSEENSKKTIDMESTEVFTKKTKLTEEEKNRLNFLKKISQYYQKFAWPQYLKTVDQHQKAMKPWTQPKTNAIPYVRYL
UniProt ID: P33238
Variant: R -> H at position 5-5
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: E -> K at position 82-82
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: Y -> H at position 231-231
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: I -> V at position 322-322
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: S -> R at position 371-371
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: S -> G at position 615-615
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33238
Variant: D -> A at position 626-626
Protein function: Does not show activity against influenza virus or VSV.
Reference sequence:
MTTQRNTDKPHSKPEDQWNMYNRNPKFKATAKRCSPNLMKDGFQSLSSPVCIEASAVPLPPDSDDEIYFPVPEQTTKESQHEQKVSMKLHEEQDVQAAEHTLYNQYEEKIRPCIDLIDSLRALGIEKDLSLPAIAVIGDQSSGKSSILEALSGVSLPRGNGIVTRCPLELKLKKIPTSQEWKGKISYRNISTDLQHASEVENAIRNAQDVVAGTKGNISGELISLEICSPYVPDLTLIDLPGIARVAMRNQPQDIGEQIKKLIKKIISSKETINLVVVPCNVDIATTEALKMAQEVDPKGERTLGILTKPDLVDIGTEEYIISIVQNEVIPLRKGYMVVKCRGQRDIHNKLTLASAIHQERQFFETHKCFSILLDQNKATIPHLAMKLTNELVAHIIKTLPTIESQIREVLQKSVQELQKYRRGTPTIETEKLAFLTDLIKLFNQDVSRVICGEEHLFGNEIRLFAKLRKEFQTWGLLLLENAAKVQKSIPSKMWKYEDQYRGREFPGFINYRTFEDIIKEQILDLEEPAIVILNNVIRLVEEKFLELTNKHFANFKNLNRAAQTKIDVIRNTQAMNAENHIRNQFKMERIVYCQDNIYLDDLRSTKAEILGKDSGKEISFASVSDKNAIFIQEMISHTKAYFTGASKRLSNQIPLIILSAVLHDFGDNLQSSMLHLLQEREKLNSLLQENSEAAKMRNYLSGRVNRLSKAYQCLKDFSCL
UniProt ID: P33241
Variant: A -> T at position 100-100
Variant annotation: in dbSNP:rs621679
Protein function: May play a role in mediating neutrophil activation and chemotaxis.
Reference sequence:
MAEASSDPGAEEREELLGPTAQWSVEDEEEAVHEQCQHERDRQLQAQDEEGGGHVPERPKQEMLLSLKPSEAPELDEDEGFGDWSQRPEQRQQHEGAQGALDSGEPPQCRSPEGEQEDRPGLHAYEKEDSDEVHLEELSLSKEGPGPEDTVQDNLGAAGAEEEQEEHQKCQQPRTPSPLVLEGTIEQSSPPLSPTTKLIDRTESLNRSIEKSNSVKKSQPDLPISKIDQWLEQYTQAIETAGRTPKLARQASIELPSMAVASTKSRWETGEVQAQSAAKTPSCKDIVAGDMSKKSLWEQKGGSKTSSTIKSTPSGKRYKFVATGHGKYEKVLVEGGPAP
UniProt ID: P33241
Variant: Q -> L at position 108-108
Variant annotation: in dbSNP:rs11545725
Protein function: May play a role in mediating neutrophil activation and chemotaxis.
Reference sequence:
MAEASSDPGAEEREELLGPTAQWSVEDEEEAVHEQCQHERDRQLQAQDEEGGGHVPERPKQEMLLSLKPSEAPELDEDEGFGDWSQRPEQRQQHEGAQGALDSGEPPQCRSPEGEQEDRPGLHAYEKEDSDEVHLEELSLSKEGPGPEDTVQDNLGAAGAEEEQEEHQKCQQPRTPSPLVLEGTIEQSSPPLSPTTKLIDRTESLNRSIEKSNSVKKSQPDLPISKIDQWLEQYTQAIETAGRTPKLARQASIELPSMAVASTKSRWETGEVQAQSAAKTPSCKDIVAGDMSKKSLWEQKGGSKTSSTIKSTPSGKRYKFVATGHGKYEKVLVEGGPAP
UniProt ID: P33241
Variant: Q -> K at position 229-229
Variant annotation: in dbSNP:rs1803928
Protein function: May play a role in mediating neutrophil activation and chemotaxis.
Reference sequence:
MAEASSDPGAEEREELLGPTAQWSVEDEEEAVHEQCQHERDRQLQAQDEEGGGHVPERPKQEMLLSLKPSEAPELDEDEGFGDWSQRPEQRQQHEGAQGALDSGEPPQCRSPEGEQEDRPGLHAYEKEDSDEVHLEELSLSKEGPGPEDTVQDNLGAAGAEEEQEEHQKCQQPRTPSPLVLEGTIEQSSPPLSPTTKLIDRTESLNRSIEKSNSVKKSQPDLPISKIDQWLEQYTQAIETAGRTPKLARQASIELPSMAVASTKSRWETGEVQAQSAAKTPSCKDIVAGDMSKKSLWEQKGGSKTSSTIKSTPSGKRYKFVATGHGKYEKVLVEGGPAP
UniProt ID: P33260
Variant: T -> M at position 385-385
Variant annotation: in dbSNP:rs1126545
Protein function: A cytochrome P450 monooxygenase involved in retinoid metabolism. Hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may modulate atRA signaling and clearance. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
Reference sequence:
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDHGEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASPCDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKHNQQSEFTVESLIATVTDMFGAGTETTSTTLRYGLLLLLKYPEVTAKVQEEIECVVGRNRSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLTSVLHNDKEFPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLKSQVDPKDIDITPIANAFGRVPPLYQLCFIPV
UniProt ID: P33261
Variant: L -> P at position 17-17
Variant annotation: in allele CYP2C19*14; dbSNP:rs55752064
Protein function: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) . Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position . Catalyzes the epoxidation of double bonds of PUFA . Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol . Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4' position .
Reference sequence:
MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFMESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV