AP1G1

adaptor related protein complex 1 subunit gamma 1

Summary

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants63 total

rsidPosition (GRCh37)AllelesClassClinVar
rs227803116:71,768,500T/C—benign
rs254348897116:71,768,532T/C—uncertain significance
rs254348903716:71,768,553C/T—uncertain significance
rs75426637016:71,768,555G/A—uncertain significance
rs254350051116:71,773,164G/A—pathogenic
rs94665084216:71,773,183C/G—uncertain significance
rs36812374816:71,773,194G/A—likely benign
rs75617607916:71,773,200A/C—likely benign
rs204558844616:71,773,218C/T—uncertain significance
rs14994794016:71,779,062C/T—likely benign
rs13835509116:71,779,100G/A—likely benign
rs122006179516:71,779,432C/T—uncertain significance
rs37195993616:71,779,452A/G—likely benign
rs75443660716:71,779,461G/C—uncertain significance
rs74773680016:71,779,462T/C—likely benign
rs76117317116:71,780,498G/C—uncertain significance
rs77415308616:71,780,571G/C—likely benign
rs254352180416:71,782,157A/C—uncertain significance
rs74707716516:71,782,158C/G—uncertain significance
rs76622359016:71,782,223G/T—likely benign
rs75385347016:71,782,224T/A—likely benign
rs99193951816:71,782,226G/C—uncertain significance
rs14257391516:71,783,163T/Cintron variant—
rs254352610216:71,783,796C/T—pathogenic
rs254352610316:71,783,798T/G—uncertain significance
rs36996930816:71,783,802T/C—likely benign
rs36910980616:71,783,883G/C—uncertain significance
rs254352719416:71,784,113T/G—uncertain significance
rs14883898316:71,784,201T/C—conflicting classifications of pathogenicity
rs102203285616:71,784,219C/T—uncertain significance
rs77400481116:71,787,749C/A—uncertain significance
rs14797215616:71,787,765T/C—likely benign
rs133388426016:71,787,774G/A—pathogenic
rs121636312616:71,787,790C/A—uncertain significance
rs77079745116:71,790,055T/C—uncertain significance
rs254354238716:71,790,057G/A—uncertain significance
rs254354964616:71,792,774G/A—uncertain significance
rs14335620516:71,792,793C/T—likely benign
rs214546289016:71,795,414C/A—likely pathogenic
rs254355593116:71,795,471C/A—likely pathogenic
rs254356171316:71,798,274A/C—uncertain significance
rs203124182516:71,798,592T/G—uncertain significance
rs203124221116:71,798,611A/G—likely benign
rs214547232716:71,799,402G/T—pathogenic
rs141202037116:71,799,472C/T—uncertain significance
rs1164252916:71,799,759G/Cintron variant—
rs1293020616:71,800,384T/G——
rs20179814316:71,803,539G/A—likely benign
rs57514056716:71,803,552G/C—conflicting classifications of pathogenicity
rs75847181316:71,803,591T/C—uncertain significance
rs227082816:71,803,829G/A——
rs14349000416:71,807,233C/A—uncertain significance
rs75593929716:71,807,261G/A—uncertain significance
rs74588936116:71,808,401A/G—uncertain significance
rs75351405016:71,808,499C/A—likely benign
rs254362409116:71,823,186C/T—uncertain significance
rs203231692316:71,823,241G/A—uncertain significance
rs214552513316:71,823,279C/T—pathogenic
rs214552513616:71,823,280G/A—pathogenic
rs96043921916:71,823,285G/A—uncertain significance
rs214552523516:71,823,339C/T—conflicting classifications of pathogenicity
rs203231923616:71,823,340G/A—likely pathogenic
rs1045980516:71,835,610G/C——

Gene information from NCBI Gene. Variant classifications from ClinVar.