PGAP3

post-GPI attachment to proteins phospholipase 3

Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

Known Variants172 total

rsidPosition (GRCh37)AllelesClassClinVar
rs295215117:37,828,496T/C—benign
rs18320863817:37,828,497G/Aregulatory region variantuncertain significance
rs294150317:37,828,745A/G—benign
rs90708717:37,828,787G/A—benign
rs103662522617:37,829,081G/A—uncertain significance
rs76188183717:37,829,098C/T—likely benign
rs76969068817:37,829,100G/C—uncertain significance
rs58777725217:37,829,105T/Cmissense variantpathogenic
rs224786217:37,829,129A/G—benign
rs37492500317:37,829,137A/G—benign
rs76148683717:37,829,138G/C—likely benign
rs86931281317:37,829,342C/Amissense variantpathogenic
rs76092304017:37,829,347T/C—uncertain significance
rs77672023217:37,829,352T/C—pathogenic
rs75954182017:37,829,353G/A—pathogenic
rs86931281417:37,829,358T/Cmissense variantpathogenic
rs86931281717:37,829,361A/Gmissense variantpathogenic
rs104494449717:37,829,364A/G—uncertain significance
rs37599705317:37,829,375C/T—likely benign
rs75009381717:37,829,376G/A—pathogenic
rs254376008917:37,829,381G/A—likely benign
rs123574270317:37,829,384G/T—uncertain significance
rs145847463017:37,829,387A/G—likely benign
rs14748118317:37,829,392G/T—likely benign
rs53225704817:37,829,395C/T—likely pathogenic
rs19291973117:37,829,396G/C—benign
rs120051180117:37,829,407G/A—likely benign
rs147789737117:37,829,411C/G—uncertain significance
rs36942995117:37,829,414C/T—likely benign
rs124897426317:37,829,424A/G—uncertain significance
rs56567641717:37,829,434C/T—conflicting classifications of pathogenicity
rs36957865017:37,829,435G/A—likely benign
rs75431883917:37,829,443G/A—uncertain significance
rs77431068917:37,829,446C/A—uncertain significance
rs20096783917:37,829,447G/A—likely benign
rs144080242517:37,829,449G/A—uncertain significance
rs11481085717:37,829,460C/T—likely benign
rs76614473917:37,829,461G/A—uncertain significance
rs156787091117:37,829,477C/T—pathogenic
rs126552607117:37,829,492C/T—likely benign
rs77853770717:37,829,497C/T—uncertain significance
rs57002322817:37,829,498G/A—likely benign
rs75897225017:37,829,499T/C—uncertain significance
rs74605655117:37,829,521G/T—likely benign
rs90350417:37,829,570C/G—benign
rs90350317:37,829,571C/A—benign
rs90350217:37,829,604T/C—benign
rs205733630217:37,829,755C/G—likely benign
rs14457424317:37,829,766C/Tsplice region variantpathogenic
rs14845710317:37,829,769A/G—uncertain significance
rs75778726517:37,829,776C/T—uncertain significance
rs20141819517:37,829,777G/A—likely benign
rs14259667617:37,829,778T/C—benign
rs75636038217:37,829,803C/T—uncertain significance
rs74940187717:37,829,808C/T—conflicting classifications of pathogenicity
rs93652801617:37,829,819C/T—uncertain significance
rs74689157417:37,829,822G/C—pathogenic
rs76499026317:37,829,836C/T—uncertain significance
rs20082459017:37,829,837G/A—likely benign
rs75215688517:37,829,854G/A—likely benign
rs15096273517:37,829,855G/C—likely benign
rs7555713117:37,829,863G/A—uncertain significance
rs18540124717:37,829,874A/G—likely benign
rs254376306417:37,829,890G/A—pathogenic
rs254376310217:37,829,898A/G—uncertain significance
rs77303437017:37,829,900G/A—likely benign
rs20059875517:37,829,913C/Tdownstream gene variantpathogenic
rs19963874917:37,829,914G/A—benign
rs118034858717:37,830,229C/T—likely benign
rs77393521517:37,830,237C/A—benign
rs214510076317:37,830,246C/G—conflicting classifications of pathogenicity
rs14984748717:37,830,250C/T—likely benign
rs14776870317:37,830,251G/A—likely benign
rs76115051517:37,830,254G/A—likely benign
rs214510097417:37,830,273A/C—uncertain significance
rs75233095817:37,830,277T/G—uncertain significance
rs11565110517:37,830,282G/A—conflicting classifications of pathogenicity
rs86931281617:37,830,292A/Gmissense variantpathogenic
rs156787174817:37,830,296G/T—pathogenic
rs75296100517:37,830,303A/G—uncertain significance
rs77997454117:37,830,326G/A—likely benign
rs74905183417:37,830,327G/A—likely benign
rs293495617:37,830,447A/T—benign
rs36937930617:37,830,860G/A—likely benign
rs254376808817:37,830,883G/A—uncertain significance
rs15048367517:37,830,888C/G—conflicting classifications of pathogenicity
rs133240057417:37,830,892G/C—uncertain significance
rs140074032717:37,830,894G/A—likely benign
rs294150417:37,830,900A/G—benign
rs20164835017:37,830,905T/C—uncertain significance
rs205735297717:37,830,908A/G—uncertain significance
rs205735304117:37,830,910C/T—pathogenic
rs18359468717:37,830,922T/G—uncertain significance
rs135521606717:37,830,930C/T—likely benign
rs93932237717:37,830,931A/G—uncertain significance
rs14351792617:37,830,973C/T—likely benign
rs156592217:37,831,035G/A—benign
rs293495217:37,832,366G/Aregulatory region variant—
rs294150517:37,832,704A/Gregulatory region variant—
rs295215217:37,832,735T/G——

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.