AP4S1

adaptor related protein complex 4 subunit sigma 1

Summary

This gene encodes a member of the adaptor complexes small 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 the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

Known Variants107 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7864801614:31,494,988G/A—benign
rs11172151414:31,531,333T/Cintron variant—
rs3602558314:31,535,057A/G—benign
rs13976704614:31,535,087C/T—likely benign
rs14981115114:31,535,117T/C—benign
rs75582072514:31,535,404T/C—likely pathogenic
rs133580439614:31,535,419T/C—likely pathogenic
rs79704525114:31,535,423G/A—uncertain significance
rs14713555414:31,535,431A/G—conflicting classifications of pathogenicity
rs99636749614:31,535,436G/A—uncertain significance
rs75494435914:31,535,445C/T—pathogenic
rs159468061314:31,535,446G/A—uncertain significance
rs77817608114:31,535,469G/A—uncertain significance
rs6197685114:31,535,472G/A—uncertain significance
rs11298760114:31,535,484C/T—uncertain significance
rs20197270314:31,535,485G/A—uncertain significance
rs55713264814:31,535,488C/G—uncertain significance
rs250238962414:31,535,495G/A—likely benign
rs76371368914:31,535,500C/G—uncertain significance
rs38790697014:31,535,526C/Asynonymous variantuncertain significance
rs14221664214:31,535,527G/A—uncertain significance
rs37774405214:31,535,535G/A—uncertain significance
rs20003384914:31,535,541G/A—likely pathogenic
rs37767982714:31,535,542T/Gsplice region variantpathogenic
rs657138614:31,535,603G/C—benign
rs657138714:31,535,756G/C—benign
rs7325217114:31,538,774C/G—likely benign
rs715061914:31,538,939A/G—benign
rs6094614114:31,538,959C/T—likely benign
rs715522814:31,538,984C/G—benign
rs147945878414:31,539,029T/C—likely benign
rs126752853014:31,539,036G/T—likely benign
rs75874801114:31,539,047A/G—likely pathogenic
rs250240837514:31,539,062A/G—uncertain significance
rs15080127214:31,539,064T/C—benign
rs37452205014:31,539,081G/A—likely benign
rs76280658314:31,539,085T/C—uncertain significance
rs37058282614:31,539,089G/A—uncertain significance
rs125294433514:31,539,090G/A—likely benign
rs76423170314:31,539,109A/G—uncertain significance
rs76548425914:31,539,120A/T—likely benign
rs95590462514:31,539,135G/C—uncertain significance
rs213905652614:31,539,140G/A—uncertain significance
rs188691362314:31,539,147G/C—likely benign
rs13865625814:31,541,910T/Gintron variant—
rs7991020214:31,541,913C/A—likely benign
rs131607037914:31,542,092C/T—likely benign
rs250242770314:31,542,102T/C—likely benign
rs213906761614:31,542,109A/G—likely pathogenic
rs14410912514:31,542,113C/T—likely benign
rs56817622314:31,542,114G/T—pathogenic
rs53550156214:31,542,153G/A—uncertain significance
rs141879479414:31,542,158A/G—likely benign
rs20044046714:31,542,174C/Tstop gainedpathogenic
rs18348789314:31,542,175G/A—uncertain significance
rs88604112714:31,542,180G/C—pathogenic
rs11557660214:31,542,324A/G—likely benign
rs11192567414:31,542,418C/A—benign
rs7325218414:31,542,426A/G—benign
rs18541029014:31,542,462T/C—benign
rs18993361314:31,542,463A/G—benign
rs11141941014:31,542,467T/C—likely benign
rs11222268514:31,542,472A/G—likely benign
rs19084113414:31,542,475T/A—likely benign
rs11352295614:31,542,479A/G—benign
rs7325380414:31,549,619T/C—benign
rs1162129914:31,549,745T/G—benign
rs20224735414:31,549,763T/C—likely benign
rs36970933014:31,549,766T/C—likely benign
rs18524657814:31,549,776C/A—pathogenic
rs213909808614:31,549,778G/A—likely pathogenic
rs250247224314:31,549,790T/C—likely benign
rs57158326414:31,549,825G/A—uncertain significance
rs75719046914:31,549,830A/G—uncertain significance
rs7480713314:31,549,832G/A—likely benign
rs74692328414:31,549,835C/T—likely benign
rs76292536514:31,549,838T/C—likely benign
rs131503315014:31,549,840G/C—uncertain significance
rs77106255714:31,549,847T/C—likely benign
rs250247298814:31,549,864G/A—likely benign
rs188759068114:31,549,868G/A—likely benign
rs715708014:31,553,720T/Gregulatory region variantbenign
rs250249767214:31,553,957T/C—likely benign
rs117217006714:31,553,969T/G—likely benign
rs91334789614:31,553,972T/A—uncertain significance
rs37460099714:31,553,980A/G—likely benign
rs20096907914:31,553,981A/G—conflicting classifications of pathogenicity
rs188784269714:31,554,004C/A—uncertain significance
rs130166693814:31,554,019C/T—likely benign
rs74599082914:31,554,022G/A—likely benign
rs188784392914:31,554,024A/G—uncertain significance
rs122609998114:31,554,041G/C—uncertain significance
rs86430959614:31,554,043C/A—uncertain significance
rs86430959814:31,554,045G/T—uncertain significance
rs75802816014:31,554,063C/A—uncertain significance
rs52849175514:31,554,065G/C—likely benign
rs78106696314:31,554,067C/T—likely benign
rs74804179214:31,554,070C/T—likely benign
rs122821481914:31,554,071A/G—uncertain significance
rs14379546914:31,554,073C/T—likely benign

Showing 100 of 107 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.