sujigwak/NVAR huggingface dataset:
UniProt ID: Q8MHY9
Variant: A -> S at position 135-135
Variant annotation: in allele CD94*03 and allele CD94*05
Protein function: KLRD1-KLRC2 acts as an immune activating receptor. On cytotoxic lymphocyte subsets recognizes MHC-E loaded with signal sequence-derived peptides from non-classical MHC class Ib MHC-G molecules, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy. Regulates the effector functions of terminally differentiated cytotoxic lymphocyte subsets, and in particular may play a role in adaptive NK cell response to viral infection. Upon MHC-E-peptide binding, transmits intracellular signals via the adapter protein TYROBP/DAP12, triggering the phosphorylation of proximal signaling molecules and cell activation.
Reference sequence:
MAVFKTTLWWLISGTLGIICLSLTATLGILLKNSFTKLSIEPAFTPGPDIELQKDSDCCSCQEKWVGYRCNCYFISSEQKTWNESRHLCASQKSSLLQLQNTDELDFMSSSQQFYWIGLSYSEEHTAWLWENGSALSQYLFPLFETFNPKNCIAYNPNGNALDESCEDKNRYICKQQLI
UniProt ID: Q8MJ02
Variant: M -> V at position 156-156
Protein function: Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG that promote DC maturation.
Reference sequence:
MAWMLLLILIMVYPGSCALWVSQPPEIRTLEGSSAFLPCSFNASQGRLAIGSVTWFRDEVAPGKEVRNGTPEFRGRLAPLSSSRFLRDHQAELHIWDVRGHDAGIYVCRVEVLGLGVGTGNGTRLVVEKEYPQLGAGTVLLLRAGFYAVSFLSVAMGSTLYYQGKCLTWKGPRRQLPAVVPGPLPPPCGSSAHLLPPVPGG
UniProt ID: Q8MJI9
Variant: R -> H at position 173-173
Protein function: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
Reference sequence:
MDTEGSSEQGKQTKEQVCSSLWPEGYPAAETVTSSVDMNTQPYRNLSGVRVGRPKLSLQGVQRGRPHSRRRHRTTFSPAQLEQLESAFGRNQYPDIWARESLAQDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPATFSGFLPEPPSCPYSYPTPPPPMTCFPHPYNRALPSQPSTGSSFARPYQSEDWYPNLHPTPAGHLACPPPPPMLPLSLEPPKSWN
UniProt ID: Q8MLZ7
Variant: A -> V at position 14-14
Variant annotation: in strain: MB01a, MB13a, MB15b and MB46b
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: M -> I at position 46-46
Variant annotation: in strain: MB25a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: I -> N at position 47-47
Variant annotation: in strain: MB25a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: N -> Y at position 113-113
Variant annotation: in strain: Berkeley
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: L -> F at position 139-139
Variant annotation: in strain: MB29b
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: V -> M at position 183-183
Variant annotation: in strain: MB47a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: R -> H at position 250-250
Variant annotation: in strain: MB33a and MB36a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: S -> T at position 349-349
Variant annotation: in strain: MB36a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: S -> T at position 351-351
Variant annotation: in strain: MB34a, MB36a, MB45b, MB46b, MB47a and MB58b
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8MLZ7
Variant: R -> C at position 434-434
Variant annotation: in strain: MB37a
Protein function: Cooperates with insulin-like peptides to stimulate the proliferation, polarization and motility of imaginal disk cells. May act by stabilizing the binding of insulin-like peptides to its receptor through a simultaneous interaction with both molecules to form a multiprotein signaling complex.
Reference sequence:
MTGSLWLSLALSLAVLAQFKVSAAPNLVCFYDSQGSQRQGLAQFSMIDIELALQFCTHLVYGYAGVNADNYEMQSINKRLDLEQRHLAQITSMKERYPHIKFLLSVGGDADTNEGNQYIKLLESGQQGHRRFIESARDLVRRYNFDGLDLALQLPRNKPRKVHGDVGSAWKSFKKFFTGDFIVDTESETHKGQVTALIKDLSAALKQNDLLLSLTVLPNVNSSWYYDAPSIAPSLDFINLGTFDFLTPQRNPEEADFSAPTYEAVGQNRLGHYNLNFQMEHWLLQRVPANKINIGIATYGRSWKMSKDSGDSGMPVVPSTQGPAPAGPQSKQEGLLNWAEICSLMPNPSNSNARGPNAPVKRVVDPTKRYGSYAFRAADENGDHGLWISYDDPDSASSKAMYARARNLGGVALFDLTQDDFRGQCTNDRFPMLRAIKYRLL
UniProt ID: Q8N0S6
Variant: I -> F at position 117-117
Variant annotation: in dbSNP:rs12086855
Protein function: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
Reference sequence:
MDSYSAPESTPSASSRPEDYFIGATPLQKRLESVRKQSSFILTPPRRKIPQCSQLQEDVDPQKVAFLLHKQWTLYSLTPLYKFSYSNLKEYSRLLNAFIVAEKQKGLAVEVGEDFNIKVIFSTLLGMKGTQRDPEAFLVQIVSKSQLPSENREGKVLWTGWFCCVFGDSLLETVSEDFTCLPLFLANGAESNTAIIGTWFQKTFDCYFSPLAINAFNLSWMAAMWTACKMDHYVATTEFLWSVPCSPQSLDISFAIHPEDAKALWDSVHKTPGEVTQEEVDLFMDCLYSHFHRHFKIHLSATRLVRVSTSVASAHTDGKIKILCHKYLIGVLAYLTELAIFQIE
UniProt ID: Q8N0V4
Variant: R -> Q at position 444-444
Variant annotation: in dbSNP:rs2232026
Protein function: Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells.
Reference sequence:
MALRRGGCGALGLLLLLLGAACLIPRSAQVRRLARCPATCSCTKESIICVGSSWVPRIVPGDISSLSLVNGTFSEIKDRMFSHLPSLQLLLLNSNSFTIIRDDAFAGLFHLEYLFIEGNKIETISRNAFRGLRDLTHLSLANNHIKALPRDVFSDLDSLIELDLRGNKFECDCKAKWLYLWLKMTNSTVSDVLCIGPPEYQEKKLNDVTSFDYECTTTDFVVHQTLPYQSVSVDTFNSKNDVYVAIAQPSMENCMVLEWDHIEMNFRSYDNITGQSIVGCKAILIDDQVFVVVAQLFGGSHIYKYDESWTKFVKFQDIEVSRISKPNDIELFQIDDETFFVIADSSKAGLSTVYKWNSKGFYSYQSLHEWFRDTDAEFVDIDGKSHLILSSRSQVPIILQWNKSSKKFVPHGDIPNMEDVLAVKSFRMQNTLYLSLTRFIGDSRVMRWNSKQFVEIQALPSRGAMTLQPFSFKDNHYLALGSDYTFSQIYQWDKEKQLFKKFKEIYVQAPRSFTAVSTDRRDFFFASSFKGKTKIFEHIIVDLSL
UniProt ID: Q8N0V4
Variant: Q -> R at position 452-452
Variant annotation: in dbSNP:rs2232027
Protein function: Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells.
Reference sequence:
MALRRGGCGALGLLLLLLGAACLIPRSAQVRRLARCPATCSCTKESIICVGSSWVPRIVPGDISSLSLVNGTFSEIKDRMFSHLPSLQLLLLNSNSFTIIRDDAFAGLFHLEYLFIEGNKIETISRNAFRGLRDLTHLSLANNHIKALPRDVFSDLDSLIELDLRGNKFECDCKAKWLYLWLKMTNSTVSDVLCIGPPEYQEKKLNDVTSFDYECTTTDFVVHQTLPYQSVSVDTFNSKNDVYVAIAQPSMENCMVLEWDHIEMNFRSYDNITGQSIVGCKAILIDDQVFVVVAQLFGGSHIYKYDESWTKFVKFQDIEVSRISKPNDIELFQIDDETFFVIADSSKAGLSTVYKWNSKGFYSYQSLHEWFRDTDAEFVDIDGKSHLILSSRSQVPIILQWNKSSKKFVPHGDIPNMEDVLAVKSFRMQNTLYLSLTRFIGDSRVMRWNSKQFVEIQALPSRGAMTLQPFSFKDNHYLALGSDYTFSQIYQWDKEKQLFKKFKEIYVQAPRSFTAVSTDRRDFFFASSFKGKTKIFEHIIVDLSL
UniProt ID: Q8N0W3
Variant: V -> M at position 146-146
Variant annotation: in dbSNP:rs17881323
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: S -> P at position 223-223
Variant annotation: in CDGF2; uncertain significance; dbSNP:rs769009456
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: A -> T at position 521-521
Variant annotation: in dbSNP:rs17881069
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: R -> H at position 571-571
Variant annotation: in dbSNP:rs17886171
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: R -> C at position 683-683
Variant annotation: in CDGF2; uncertain significance; dbSNP:rs755169246
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: P -> L at position 701-701
Variant annotation: in dbSNP:rs17883716
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: A -> T at position 858-858
Variant annotation: in dbSNP:rs17884050
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP
UniProt ID: Q8N0W3
Variant: V -> M at position 861-861
Variant annotation: in dbSNP:rs17878599
Protein function: Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.
Reference sequence:
MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLLLAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFDDCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPANPGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGRVPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENVTREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSASEFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGPIHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQGAGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWMLDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQDLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGLRSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILIRQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAVRVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKAAFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQRAAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVTVPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAEGFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFLYLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP