AP2S1

adaptor related protein complex 2 subunit sigma 1

Summary

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants100 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14221852419:47,341,417T/C—likely benign
rs1765319:47,341,494G/A—benign
rs7695528319:47,341,634C/T—likely benign
rs76226719519:47,341,746C/T—likely benign
rs205545197919:47,341,747G/A—uncertain significance
rs126674806519:47,341,769C/T—uncertain significance
rs76253261419:47,341,770G/A—likely benign
rs251405405819:47,341,773A/C—likely benign
rs75128340119:47,341,776C/T—likely benign
rs251405414419:47,341,789T/C—uncertain significance
rs75265338319:47,341,797C/T—likely benign
rs75603830419:47,341,798G/A—uncertain significance
rs77908752519:47,341,799T/A—uncertain significance
rs74596126219:47,341,808G/A—uncertain significance
rs146300792819:47,341,815G/A—likely benign
rs136380753519:47,341,816G/A—likely benign
rs4552703819:47,341,827G/A—likely benign
rs54138229319:47,341,835G/A—uncertain significance
rs14769865219:47,341,884C/A—likely benign
rs20023736419:47,341,949C/T—likely benign
rs36771142719:47,341,989G/A—likely benign
rs205545768019:47,341,992C/T—uncertain significance
rs251405492919:47,342,021C/T—likely benign
rs155574848319:47,342,022A/G—uncertain significance
rs251405496819:47,342,027A/G—likely benign
rs77040052119:47,342,030G/A—likely benign
rs77376868519:47,342,039G/A—conflicting classifications of pathogenicity
rs14338424619:47,342,048G/A—likely benign
rs124831222919:47,342,062A/G—likely benign
rs205545862719:47,342,064A/C—likely benign
rs212275401419:47,342,082A/C—likely benign
rs31218719:47,342,239A/T—benign
rs11753652719:47,342,320G/C—benign
rs11199701919:47,342,413G/A—likely benign
rs75160003919:47,342,685A/C—likely benign
rs37385505219:47,342,689G/C—likely benign
rs18176383519:47,342,691C/T—likely benign
rs77815415519:47,342,692T/C—likely benign
rs19977057419:47,342,703C/T—likely benign
rs18534376419:47,342,714C/T—likely benign
rs117221601719:47,342,715G/A—conflicting classifications of pathogenicity
rs31218619:47,342,717C/T—benign
rs77659060819:47,342,718G/C—uncertain significance
rs15133584119:47,342,728G/A—likely benign
rs251405914519:47,342,739T/C—uncertain significance
rs37706991919:47,342,748G/A—likely benign
rs251405923419:47,342,753G/A—uncertain significance
rs251405933919:47,342,780C/T—uncertain significance
rs205547852019:47,342,784T/C—uncertain significance
rs251405942719:47,342,800A/G—likely benign
rs251405944619:47,342,803A/G—likely benign
rs75499725319:47,342,807C/T—uncertain significance
rs212275900219:47,342,808G/A—uncertain significance
rs105752280919:47,342,810C/T—uncertain significance
rs205547951519:47,342,824A/G—likely benign
rs251405959419:47,342,828T/C—uncertain significance
rs89978026519:47,342,830C/G—likely benign
rs77806624219:47,342,854G/A—likely benign
rs53457553519:47,342,864G/A—likely benign
rs31218519:47,342,867A/C—benign
rs1771617119:47,342,929G/A—benign
rs11674354419:47,343,079C/A—benign
rs140780035819:47,349,233C/T—likely benign
rs74651794319:47,349,236G/A—likely benign
rs148236194919:47,349,237G/A—likely benign
rs124414350019:47,349,241G/A—likely benign
rs20168647019:47,349,244C/T—conflicting classifications of pathogenicity
rs74785002819:47,349,245G/A—uncertain significance
rs53948037219:47,349,273C/T—uncertain significance
rs37451476919:47,349,274G/A—likely benign
rs212279221019:47,349,278C/T—uncertain significance
rs159977170719:47,349,279G/C—uncertain significance
rs89089756919:47,349,283G/A—likely benign
rs36898834619:47,349,292G/A—likely benign
rs94377743819:47,349,298C/T—likely benign
rs37607481719:47,349,307G/A—likely benign
rs15008002719:47,349,328A/G—likely benign
rs212279253719:47,349,331A/G—likely benign
rs100119272219:47,349,337C/G—uncertain significance
rs251407997719:47,349,355C/T—likely benign
rs39751449919:47,349,359C/Amissense variantpathogenic
rs39751449819:47,349,360G/Amissense variantpathogenic
rs75403900219:47,349,361C/T—likely benign
rs37442184419:47,349,373C/T—likely benign
rs129710923119:47,349,374C/T—uncertain significance
rs106479523519:47,349,375G/A—conflicting classifications of pathogenicity
rs37670013019:47,349,385G/A—likely benign
rs20198474219:47,349,388G/A—likely benign
rs128140355819:47,349,394G/C—likely benign
rs55560434619:47,349,404G/A—likely benign
rs36880358419:47,349,406G/A—likely benign
rs205562845419:47,349,407C/A—likely benign
rs74911330819:47,349,419A/T—uncertain significance
rs37066053219:47,349,448G/A—likely benign
rs55749725119:47,353,383C/T—likely benign
rs11450117419:47,353,913C/A—likely benign
rs139633953919:47,354,001G/T—likely benign
rs156845178319:47,354,007C/A—likely benign
rs75997429019:47,354,008G/C—likely benign
rs77262656919:47,354,010T/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.