GPAA1

glycosylphosphatidylinositol anchor attachment 1

Summary

Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]

Known Variants466 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15547636648:145,137,634A/C—uncertain significance
rs25373129698:145,137,639C/G—likely benign
rs18359290288:145,137,640C/G—uncertain significance
rs25373129878:145,137,650A/G—uncertain significance
rs7819579288:145,137,652C/T—uncertain significance
rs21299365948:145,137,653C/T—uncertain significance
rs12735982668:145,137,659G/A—uncertain significance
rs10208522628:145,137,662G/A—uncertain significance
rs15547636718:145,137,666C/A—likely benign
rs18359295388:145,137,668C/T—uncertain significance
rs9657151418:145,137,669G/A—likely benign
rs14448064368:145,137,678C/T—likely benign
rs5455013888:145,137,682G/T—uncertain significance
rs18359301568:145,137,684G/A—likely benign
rs25373130378:145,137,685C/G—uncertain significance
rs14543004708:145,137,691C/T—uncertain significance
rs11763057488:145,137,695A/G—uncertain significance
rs14709564928:145,137,696C/T—likely benign
rs25373130978:145,137,708G/A—likely pathogenic
rs12055985818:145,137,711A/G—uncertain significance
rs21299370278:145,137,716A/G—likely benign
rs21299370548:145,137,722C/G—likely benign
rs561641028:145,137,723G/T—benign
rs21299370988:145,137,727A/C—likely benign
rs7826190728:145,138,007C/T—likely benign
rs7823293378:145,138,012C/T—likely benign
rs2009998138:145,138,022C/T—conflicting classifications of pathogenicity
rs7818990188:145,138,045G/A—likely benign
rs1384126008:145,138,063G/A—benign
rs21299383248:145,138,068T/C—uncertain significance
rs7817926988:145,138,077C/T—uncertain significance
rs7825353478:145,138,081G/A—likely benign
rs13725794588:145,138,087C/T—likely benign
rs18359365258:145,138,089A/G—uncertain significance
rs21299384118:145,138,091C/G—uncertain significance
rs15547637668:145,138,092G/A—uncertain significance
rs21299384268:145,138,093C/G—likely benign
rs2005816238:145,138,101T/A—conflicting classifications of pathogenicity
rs15547637708:145,138,104C/T—likely pathogenic
rs2003712538:145,138,111C/T—likely benign
rs7819899558:145,138,120C/T—likely benign
rs2010848458:145,138,133G/A—uncertain significance
rs14531654668:145,138,135G/T—uncertain significance
rs25373140018:145,138,136G/T—pathogenic
rs7827487318:145,138,149G/T—uncertain significance
rs25373140318:145,138,154G/T—uncertain significance
rs7818083888:145,138,157C/T—uncertain significance
rs25373140328:145,138,158G/T—uncertain significance
rs3692945628:145,138,172G/T—uncertain significance
rs7827932948:145,138,173C/T—uncertain significance
rs7825024438:145,138,180C/T—likely benign
rs15547637978:145,138,188C/T—uncertain significance
rs7818156588:145,138,190C/T—uncertain significance
rs18359389238:145,138,192C/T—likely benign
rs12388777978:145,138,194G/T—uncertain significance
rs7824424488:145,138,197A/G—uncertain significance
rs25373142098:145,138,200A/G—uncertain significance
rs5309229008:145,138,201G/A—likely benign
rs13934612738:145,138,212C/T—uncertain significance
rs3763499628:145,138,217G/A—likely benign
rs15547638198:145,138,282G/T—likely benign
rs3693883208:145,138,284G/A—likely benign
rs5719855318:145,138,286C/T—likely benign
rs25373143428:145,138,306C/T—uncertain significance
rs3731730108:145,138,315A/C—uncertain significance
rs18359410358:145,138,320A/G—uncertain significance
rs18359410718:145,138,321C/T—uncertain significance
rs3715850158:145,138,322G/A—likely benign
rs7825800048:145,138,326C/T—uncertain significance
rs25373143848:145,138,330C/T—uncertain significance
rs5390049098:145,138,331A/G—likely benign
rs12620200218:145,138,340G/A—likely benign
rs25373144208:145,138,348A/T—uncertain significance
rs2014240108:145,138,351C/A—uncertain significance
rs7820477058:145,138,363C/T—uncertain significance
rs7827948558:145,138,365C/T—uncertain significance
rs15547638408:145,138,394C/G—uncertain significance
rs7820903468:145,138,397G/A—likely benign
rs15547638428:145,138,403T/C—likely benign
rs13140427878:145,138,404G/A—likely pathogenic
rs18359426158:145,138,407C/T—uncertain significance
rs25373145008:145,138,412G/A—likely benign
rs18359427948:145,138,413G/A—likely benign
rs3770739188:145,138,420G/A—likely benign
rs7821094888:145,138,598C/T—likely benign
rs3680542328:145,138,599C/T—likely benign
rs5405791958:145,138,602C/T—likely benign
rs9009481808:145,138,605T/C—likely benign
rs21299404458:145,138,607C/T—likely benign
rs1135830338:145,138,616G/A—likely pathogenic
rs1166996848:145,138,621T/C—likely benign
rs1391677658:145,138,622G/A—likely benign
rs5613079868:145,138,625G/C—likely benign
rs7822536638:145,138,627G/A—uncertain significance
rs7821988318:145,138,635G/A—uncertain significance
rs3684782768:145,138,640C/G—pathogenic
rs11968666038:145,138,642G/T—uncertain significance
rs15547638808:145,138,643C/T—likely benign
rs13478664518:145,138,646C/T—likely benign
rs12782833778:145,138,650C/T—uncertain significance

Showing 100 of 466 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.