AP4E1

adaptor related protein complex 4 subunit epsilon 1

Summary

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Known Variants467 total

rsidPosition (GRCh37)AllelesClassClinVar
rs261478715:51,200,218T/Cregulatory region variant—
rs1290851615:51,200,754C/T—benign
rs230632915:51,200,839A/C—benign
rs77350259815:51,200,929C/A—likely benign
rs37408303215:51,200,936G/A—likely benign
rs105751852315:51,200,973G/T—uncertain significance
rs250464051615:51,200,977T/C—uncertain significance
rs140634588615:51,201,000C/G—uncertain significance
rs55352215215:51,201,004C/T—uncertain significance
rs77136656215:51,201,005G/T—likely benign
rs250464069215:51,201,008G/A—likely benign
rs14302795315:51,201,017A/G—likely benign
rs76365510115:51,201,021T/C—uncertain significance
rs76633041315:51,201,040G/A—uncertain significance
rs37368433615:51,201,042G/C—uncertain significance
rs214112098515:51,201,043G/T—uncertain significance
rs206352991315:51,201,061A/C—uncertain significance
rs77946679715:51,201,068C/T—likely benign
rs132809844515:51,201,079G/A—uncertain significance
rs214112102515:51,201,085G/T—uncertain significance
rs206353051015:51,201,096C/A—uncertain significance
rs206353066415:51,201,107A/T—likely benign
rs15113524515:51,201,108G/A—uncertain significance
rs250464134815:51,201,111C/G—uncertain significance
rs76280478615:51,201,113C/T—likely benign
rs76623144315:51,201,123C/A—uncertain significance
rs214112108315:51,201,125C/T—uncertain significance
rs76069352615:51,201,140G/A—likely benign
rs7667453415:51,201,158A/G—benign
rs7274238315:51,201,281A/G—benign
rs261478915:51,201,357G/T—benign
rs250464389915:51,201,718C/G—likely pathogenic
rs381671715:51,204,133C/T—benign
rs138401471715:51,204,264C/T—likely benign
rs77071234515:51,204,265A/G—likely benign
rs214112625415:51,204,271T/G—likely benign
rs76191650715:51,204,289A/G—likely benign
rs2846377515:51,204,295G/A—likely benign
rs121481388115:51,204,298G/A—likely benign
rs36858484715:51,204,318C/T—uncertain significance
rs37659737615:51,204,319G/T—likely benign
rs155545322215:51,204,321C/T—uncertain significance
rs75871931315:51,204,327C/T—uncertain significance
rs159645058515:51,204,330C/T—uncertain significance
rs149023298815:51,204,335A/G—uncertain significance
rs75554005715:51,204,336C/T—uncertain significance
rs55436070415:51,204,349A/G—uncertain significance
rs79704524515:51,204,355G/A—uncertain significance
rs77731563415:51,204,357A/G—likely benign
rs114712915:51,204,364G/A—benign
rs2854437515:51,204,500C/T—likely benign
rs76802627415:51,207,645A/C—uncertain significance
rs74873293315:51,207,672C/A—uncertain significance
rs14700578615:51,207,676T/C—uncertain significance
rs13813848415:51,207,679A/G—uncertain significance
rs14362428315:51,207,680T/C—conflicting classifications of pathogenicity
rs77340122415:51,207,697A/G—conflicting classifications of pathogenicity
rs214113146215:51,207,699G/C—uncertain significance
rs77119255215:51,207,706C/T—uncertain significance
rs106050480015:51,207,713C/T—likely benign
rs120391088715:51,207,715A/G—uncertain significance
rs206361960115:51,207,748A/G—uncertain significance
rs36949090215:51,207,750C/G—uncertain significance
rs37356648715:51,207,765G/A—uncertain significance
rs266355315:51,207,818G/C—benign
rs114712815:51,207,983G/A—benign
rs11568961515:51,207,997G/A—likely benign
rs76467458115:51,216,136G/T—uncertain significance
rs75425032115:51,216,142T/A—uncertain significance
rs74992746715:51,216,155A/G—uncertain significance
rs206373877815:51,216,163C/T—uncertain significance
rs250469088715:51,216,165T/G—uncertain significance
rs77985134315:51,216,171A/G—likely benign
rs14403960115:51,216,172T/C—likely benign
rs75467548715:51,216,180C/G—likely benign
rs76974119715:51,216,196G/A—uncertain significance
rs250469111415:51,216,202G/T—likely pathogenic
rs77901467315:51,216,209A/G—likely benign
rs206373949215:51,216,210T/C—likely benign
rs206373955215:51,216,212G/C—likely benign
rs7583101715:51,217,013T/G—likely benign
rs14667959315:51,217,275T/C—benign
rs74723095515:51,217,303G/C—uncertain significance
rs77691518915:51,217,315A/G—likely benign
rs136824272015:51,217,316G/A—uncertain significance
rs77043247315:51,217,324G/T—likely benign
rs18471225915:51,217,333A/C—likely benign
rs75541557515:51,217,339T/C—likely benign
rs76595175015:51,217,340G/A—conflicting classifications of pathogenicity
rs230633115:51,217,361T/C—benign
rs55635754915:51,217,364G/A—uncertain significance
rs98369391415:51,217,375A/G—likely benign
rs75373116915:51,217,379G/A—uncertain significance
rs140496809015:51,217,415A/C—uncertain significance
rs146598503915:51,217,425A/C—likely benign
rs5888299815:51,217,427T/G—likely benign
rs230633215:51,217,475G/A—benign
rs230633315:51,217,674A/G—benign
rs803660415:51,220,989A/G—benign
rs88995659115:51,221,210A/T—uncertain significance

Showing 100 of 467 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.