POFUT1

protein O-fucosyltransferase 1

Summary

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants95 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14352874020:30,795,721G/A—benign
rs19213748120:30,795,729G/C—benign
rs104840995020:30,795,765A/G—likely benign
rs75829749320:30,795,768G/A—likely benign
rs126499467320:30,795,814A/T—likely benign
rs192309520:30,795,819T/C—benign
rs36841395020:30,795,834C/G—uncertain significance
rs612138820:30,796,103T/G—likely benign
rs1190517220:30,797,628T/C—benign
rs251617388220:30,797,854C/G—likely benign
rs77948101220:30,797,859A/G—likely benign
rs77094271720:30,797,893C/T—likely benign
rs37090968920:30,797,894G/A—uncertain significance
rs11355243820:30,797,896T/C—benign
rs14882910820:30,797,937G/A—uncertain significance
rs251617408620:30,797,952C/G—uncertain significance
rs14248423520:30,797,976A/G—uncertain significance
rs251617415720:30,797,981C/T—uncertain significance
rs77815512920:30,797,983T/G—likely benign
rs74594278220:30,797,994A/C—uncertain significance
rs251617421720:30,797,999A/T—uncertain significance
rs11328090920:30,801,122C/Tintron variant—
rs11155182220:30,802,911C/T—benign
rs76493770620:30,803,065C/T—likely benign
rs156915230320:30,803,114C/T—pathogenic
rs204735387720:30,803,135A/G—uncertain significance
rs14759195720:30,803,190G/A—likely benign
rs77881657520:30,803,197A/T—likely benign
rs251617971120:30,803,219C/G—uncertain significance
rs36981884520:30,803,222C/T—pathogenic
rs76938865220:30,803,241C/T—uncertain significance
rs212257126820:30,803,250T/C—uncertain significance
rs76104405120:30,803,267G/A—uncertain significance
rs11551527320:30,803,271C/T—benign
rs7934788520:30,803,333T/C—benign
rs39812303820:30,804,412G/Tstop gainedpathogenic
rs37337475120:30,804,462C/A—uncertain significance
rs54389540920:30,804,534G/T—benign
rs13901498020:30,804,535G/C—likely benign
rs5767761120:30,804,539T/C—benign
rs75167811020:30,804,543G/A—likely benign
rs14415219420:30,804,704G/A—likely benign
rs212259629920:30,816,083A/G—uncertain significance
rs37699221220:30,816,087G/A—likely benign
rs20041375020:30,816,088G/A—uncertain significance
rs657900520:30,816,111A/G—benign
rs91943312520:30,816,123C/T—likely benign
rs251619440620:30,816,147A/G—likely benign
rs57814790220:30,816,160G/C—uncertain significance
rs130605478220:30,816,172G/A—uncertain significance
rs147331208920:30,816,194C/A—uncertain significance
rs14629919620:30,816,217C/T—uncertain significance
rs74994368520:30,816,221C/T—uncertain significance
rs75880923320:30,816,242G/A—uncertain significance
rs54322468420:30,816,269C/A—benign
rs6220742320:30,816,377C/T—likely benign
rs727313120:30,816,431A/G—benign
rs727466520:30,816,456T/C—benign
rs13789015420:30,818,609C/T—benign
rs37090339120:30,818,610C/T—benign
rs20089609920:30,818,611G/A—benign
rs55097270720:30,818,617C/T—benign
rs13836905220:30,818,627C/T—benign
rs7998483120:30,818,637A/G—likely benign
rs37047966820:30,818,648C/T—likely benign
rs14283502520:30,818,649G/A—uncertain significance
rs156916194120:30,818,662C/T—uncertain significance
rs74832896320:30,818,670A/G—uncertain significance
rs77355675520:30,818,700C/T—uncertain significance
rs55336845920:30,818,710C/T—uncertain significance
rs76536427920:30,818,711G/A—likely benign
rs14866806920:30,818,722C/T—conflicting classifications of pathogenicity
rs78101368420:30,818,723G/A—likely benign
rs76096489020:30,818,748A/C—uncertain significance
rs14090004320:30,818,753G/A—benign
rs7886174820:30,818,786G/A—likely benign
rs57604932020:30,818,800C/T—uncertain significance
rs3596888420:30,818,823G/A—benign
rs1726866620:30,818,850C/T—benign
rs74779334620:30,818,857A/G—uncertain significance
rs381821920:30,819,042T/C—benign
rs134782283820:30,822,316A/G—uncertain significance
rs37219312020:30,822,329C/T—likely benign
rs37677737820:30,822,333C/G—uncertain significance
rs3525953420:30,822,339G/A—benign
rs76611791820:30,822,353C/G—likely benign
rs20176956820:30,822,388G/A—uncertain significance
rs74661171320:30,822,394G/A—uncertain significance
rs78054489220:30,822,413G/A—likely benign
rs74986617920:30,822,425C/T—likely benign
rs76920044920:30,822,426G/A—uncertain significance
rs78099123120:30,822,452G/A—likely benign
rs726339020:30,822,455C/T—benign
rs1712308520:30,822,563A/G—benign
rs5974504520:30,822,625G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.