VPS53

VPS53 subunit of GARP complex

Summary

Involved in endocytic recycling and retrograde transport, endosome to Golgi. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants530 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75312609617:422,366T/C—likely benign
rs139262958517:422,377C/T—likely benign
rs92241316817:422,386G/A—likely benign
rs37644077217:422,395G/A—likely benign
rs254348741817:422,407G/A—likely benign
rs56165693817:422,409G/C—conflicting classifications of pathogenicity
rs104841415817:422,413C/T—likely benign
rs254348748817:422,419T/C—likely benign
rs254348754317:422,428T/C—likely benign
rs37726965517:422,434C/T—likely benign
rs94698120817:422,437C/T—likely benign
rs53414494217:422,438G/A—likely benign
rs190852887217:422,440C/G—likely benign
rs77143968217:422,447A/G—uncertain significance
rs77947992417:422,452G/A—likely benign
rs76826323717:422,455G/A—likely benign
rs159723697017:422,461T/C—likely benign
rs190853369417:422,464T/C—likely benign
rs37743396017:422,470C/T—likely benign
rs57381262917:422,471G/A—likely benign
rs101272306817:422,476C/A—likely benign
rs90572552217:422,479T/C—likely benign
rs89353709717:422,482G/A—likely benign
rs128572170917:422,485G/C—likely benign
rs121002218017:422,490G/T—likely benign
rs77309727117:422,494G/A—likely benign
rs118850963117:422,496G/A—uncertain significance
rs136350375317:422,497C/T—likely benign
rs101063822217:422,502G/C—uncertain significance
rs102324795217:422,515G/A—likely benign
rs143466857517:422,520G/A—uncertain significance
rs96898946317:422,530C/T—likely benign
rs119186976517:422,538C/G—uncertain significance
rs254348848917:422,547G/A—likely benign
rs141585553717:422,549G/A—likely benign
rs155554623617:422,551G/A—likely benign
rs254348855517:422,557C/G—likely benign
rs203408717:422,896G/A—benign
rs203408817:423,051T/C—benign
rs102568489917:423,054C/T—likely benign
rs53732433917:423,056C/T—likely benign
rs37317357717:423,057G/A—likely benign
rs133040353117:423,058G/C—likely benign
rs254349131217:423,075C/T—likely benign
rs37440024317:423,090G/C—likely benign
rs190859153917:423,129G/A—likely benign
rs37727446917:423,141C/T—likely benign
rs37115652717:423,143C/T—uncertain significance
rs37446056317:423,147C/T—likely benign
rs132335180617:423,156A/C—likely benign
rs254349190517:423,162C/T—uncertain significance
rs254349191617:423,165C/G—likely benign
rs129469000117:423,177C/A—likely benign
rs76953668617:423,178G/A—likely benign
rs190859734417:423,185G/T—likely benign
rs190859761117:423,187C/T—likely benign
rs122941382917:423,189G/T—likely benign
rs127858647317:423,190G/A—likely benign
rs254349893517:424,824T/C—likely benign
rs123842351217:424,828C/A—likely benign
rs97855097917:424,830C/T—likely benign
rs190875244917:424,832A/C—likely benign
rs128776954517:424,834C/G—likely benign
rs254349899517:424,836A/G—uncertain significance
rs77434799217:424,860C/A—uncertain significance
rs92716369617:424,862G/A—likely benign
rs132254867517:424,877A/G—likely benign
rs1695315617:424,880G/A—benign
rs77551866317:424,886G/A—likely benign
rs37372102017:424,898G/A—likely benign
rs94938351717:424,913C/T—likely benign
rs115778648817:424,919C/A—likely benign
rs103787379317:424,931G/A—likely benign
rs5924001617:424,934G/C—benign
rs53720451117:424,940G/A—likely benign
rs37196463217:424,958C/T—likely benign
rs254349981617:424,972G/A—likely benign
rs254349982617:424,975G/A—likely benign
rs254349985717:424,982T/C—likely benign
rs130499324417:424,984G/A—likely benign
rs131875386017:424,985A/G—likely benign
rs254349992717:424,992C/G—likely benign
rs128032505417:424,997A/G—likely benign
rs1165134017:425,099G/T—benign
rs1245015817:425,483G/Aregulatory region variant—
rs1165042417:435,896T/C—benign
rs254354975517:436,068T/A—likely benign
rs76566254717:436,070C/T—likely benign
rs14139085517:436,071G/A—likely benign
rs58777746517:436,083T/Cmissense variantpathogenic
rs14037604917:436,105T/C—likely benign
rs77881926717:436,115C/T—likely benign
rs14560126017:436,121G/A—likely benign
rs136186122617:436,127G/C—likely benign
rs14188891917:436,145G/A—likely benign
rs190971440317:436,166G/T—likely benign
rs7963954317:436,196A/C—benign
rs230494717:436,221G/C—benign
rs230494817:436,308T/C—benign
rs1165396117:440,108A/C—benign

Showing 100 of 530 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.