PIGU

phosphatidylinositol glycan anchor biosynthesis class U

Summary

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

Known Variants100 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37646740120:33,148,676G/C—likely benign
rs75871437520:33,148,681C/T—uncertain significance
rs123565674220:33,148,700A/G—likely benign
rs56716707720:33,148,705T/C—uncertain significance
rs53142177820:33,148,708C/T—uncertain significance
rs19985296820:33,148,715G/A—likely benign
rs13969570520:33,148,721G/C—likely benign
rs77257884420:33,148,733G/C—uncertain significance
rs14523517120:33,148,734T/C—uncertain significance
rs141708138920:33,148,742C/T—likely benign
rs20223107120:33,148,758T/C—uncertain significance
rs74909151620:33,148,769A/G—likely benign
rs139293994720:33,148,793G/A—likely benign
rs119913063720:33,150,359C/T—uncertain significance
rs608852820:33,156,742G/Aintron variant—
rs91980561520:33,162,905T/C—uncertain significance
rs75691220520:33,162,953G/T—pathogenic
rs77238274320:33,163,002A/G—uncertain significance
rs20192255220:33,163,012C/T—uncertain significance
rs14547348320:33,163,015T/C—uncertain significance
rs75269906520:33,163,040G/A—likely benign
rs75574017320:33,163,070C/T—likely benign
rs288984920:33,164,277T/A——
rs20133829920:33,169,337G/A—likely benign
rs95057090820:33,169,339C/T—likely benign
rs136963976120:33,169,353T/C—uncertain significance
rs75883807520:33,169,371C/A—likely benign
rs14538137020:33,169,373C/T—likely benign
rs37626131620:33,169,395C/T—likely benign
rs14068882620:33,169,401G/A—likely benign
rs4129089620:33,169,405C/T—benign
rs198346888320:33,169,406C/G—uncertain significance
rs55595810220:33,169,414G/A—uncertain significance
rs251618441420:33,169,418A/G—uncertain significance
rs74619186620:33,169,434G/A—likely benign
rs37424628720:33,169,443G/A—likely benign
rs77316866620:33,169,464G/T—likely benign
rs188466920:33,171,287G/C——
rs91087320:33,171,772G/C——
rs77906846120:33,173,225A/T—likely benign
rs251618934420:33,173,253G/C—uncertain significance
rs132834270320:33,173,300A/G—uncertain significance
rs7785948920:33,173,306G/C—benign
rs251618963620:33,173,366G/C—likely benign
rs13911587520:33,173,381A/G—likely benign
rs56358564020:33,176,241C/T—likely benign
rs75722535120:33,176,259A/C—uncertain significance
rs52842464420:33,176,273C/T—uncertain significance
rs77979356720:33,176,274G/A—likely benign
rs214671294720:33,176,315A/G—uncertain significance
rs198379639320:33,176,322T/G—uncertain significance
rs75306335220:33,176,354A/G—uncertain significance
rs75733748320:33,176,411G/A—uncertain significance
rs1730557320:33,180,152T/A——
rs11691531920:33,203,900G/A—likely benign
rs37672935120:33,203,907G/A—uncertain significance
rs77718298120:33,203,932G/A—uncertain significance
rs77475606020:33,203,946G/T—uncertain significance
rs237824920:33,218,090G/Aintron variant—
rs614220920:33,220,984T/Cintron variant—
rs20031487120:33,222,426C/T—likely benign
rs37146183220:33,222,462G/A—likely benign
rs251624811020:33,222,466G/A—uncertain significance
rs119519440820:33,222,498C/T—likely benign
rs76286584120:33,222,499G/A—uncertain significance
rs11556942920:33,222,528G/A—benign
rs251624822220:33,222,535C/T—likely benign
rs605809420:33,224,174C/G——
rs14404228520:33,225,704T/C—uncertain significance
rs75570419220:33,225,707C/T—uncertain significance
rs14865735620:33,225,708G/A—uncertain significance
rs78145133420:33,225,726G/A—uncertain significance
rs20142377020:33,225,736G/A—likely benign
rs251625161420:33,225,746G/T—uncertain significance
rs18995938820:33,225,755T/C—likely benign
rs608855920:33,228,312C/A——
rs160065516820:33,231,958A/T—likely benign
rs14692850620:33,231,978T/C—likely benign
rs198625720820:33,231,994C/T—uncertain significance
rs75623926120:33,232,041A/G—likely benign
rs37571021320:33,232,050T/C—likely benign
rs160065614120:33,233,125A/T—pathogenic
rs93824135420:33,233,132A/G—likely benign
rs5623868420:33,236,696G/Cintron variant—
rs76934346220:33,244,985T/G—uncertain significance
rs76675759520:33,245,017T/C—likely benign
rs14967972420:33,245,022A/C—uncertain significance
rs7618543820:33,264,731T/G—benign
rs37510653820:33,264,751T/C—likely benign
rs76550143120:33,264,779T/G—likely benign
rs75150505920:33,264,791C/T—likely benign
rs78099827420:33,264,828C/T—uncertain significance
rs214680544520:33,264,831A/G—uncertain significance
rs20195387820:33,264,865G/A—likely benign
rs37594912320:33,264,867A/G—uncertain significance
rs77973637920:33,264,869C/G—likely benign
rs56282273220:33,264,871G/A—benign
rs37163741620:33,264,875C/G—uncertain significance
rs251629758720:33,264,879G/A—uncertain significance
rs76569280120:33,264,888A/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.