VPS51

VPS51 subunit of GARP complex

Summary

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Known Variants69 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75543948111:64,863,736C/Tuncertain significance
rs74713483311:64,863,754C/Tuncertain significance
rs92180371811:64,863,786C/Tuncertain significance
rs18404592911:64,863,791G/Cuncertain significance
rs97678706911:64,863,810C/Tuncertain significance
rs124094854611:64,863,865C/Tuncertain significance
rs194776936811:64,863,922A/Tuncertain significance
rs77206718111:64,863,923C/Guncertain significance
rs159080864811:64,863,958C/Tlikely benign
rs249583771711:64,864,552T/Cuncertain significance
rs54889265911:64,866,009A/G
rs14460480711:64,875,114C/Tlikely benign
rs142253540611:64,875,161C/Tuncertain significance
rs37511632211:64,875,177C/Guncertain significance
rs127777479811:64,875,182G/Auncertain significance
rs134795096111:64,875,326G/Auncertain significance
rs37003992711:64,875,423G/Clikely benign
rs37349699211:64,875,428G/Auncertain significance
rs37733554211:64,875,465C/Glikely benign
rs20170144311:64,875,466C/Auncertain significance
rs253914729911:64,875,469G/Tuncertain significance
rs77056256511:64,875,488G/Auncertain significance
rs145809811411:64,875,686C/Tuncertain significance
rs139741644111:64,875,688C/Tuncertain significance
rs77154006311:64,875,904G/Auncertain significance
rs130996061811:64,875,921T/Auncertain significance
rs37578257711:64,875,932G/Tuncertain significance
rs127363921711:64,875,956C/Tuncertain significance
rs76769886711:64,875,963C/Guncertain significance
rs74551962311:64,876,013C/Tuncertain significance
rs74976088511:64,876,037A/Guncertain significance
rs128041170611:64,876,048G/Tuncertain significance
rs124355069711:64,876,075C/Tuncertain significance
rs135754875411:64,876,087C/Auncertain significance
rs76504480411:64,876,104C/Tlikely benign
rs14595996611:64,876,110C/Tlikely benign
rs37473106011:64,876,160G/Auncertain significance
rs77103878111:64,876,186C/Tuncertain significance
rs77697156411:64,876,187G/Auncertain significance
rs194786484711:64,876,241G/Cuncertain significance
rs14939143111:64,876,272C/Glikely benign
rs120052574611:64,876,273G/Auncertain significance
rs52730786911:64,876,319C/Tuncertain significance
rs140578852511:64,876,351A/Tuncertain significance
rs124796520111:64,876,372A/Cuncertain significance
rs77760740811:64,876,384C/Tuncertain significance
rs7293283611:64,876,390C/Tlikely benign
rs7293283711:64,876,740C/Tbenign
rs120300996611:64,876,776C/Tpathogenic
rs37204828311:64,876,801T/Cuncertain significance
rs55387145811:64,876,813G/Auncertain significance
rs77070152511:64,876,858G/Auncertain significance
rs253915015911:64,876,962G/Auncertain significance
rs14653229611:64,877,200G/Clikely benign
rs74737835111:64,877,205C/Tuncertain significance
rs37538688711:64,877,238G/Auncertain significance
rs20070975811:64,877,318C/Auncertain significance
rs37541453911:64,877,437G/Auncertain significance
rs7349506011:64,877,947C/Tbenign
rs77325279411:64,877,981C/Tuncertain significance
rs76098330511:64,877,983C/Alikely benign
rs122887294811:64,878,019C/Guncertain significance
rs20069669911:64,878,063G/Auncertain significance
rs37276032911:64,878,171C/Tuncertain significance
rs213719555711:64,878,199C/Alikely benign
rs13857976311:64,878,234G/Clikely benign
rs116242814211:64,878,803C/Tuncertain significance
rs253915455611:64,878,982G/Auncertain significance
rs253915460111:64,879,000T/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.