VPS16

VPS16 core subunit of CORVET and HOPS complexes

Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

Known Variants117 total

rsidPosition (GRCh37)AllelesClassClinVar
rs91365920:2,821,144C/T—benign
rs229704620:2,821,400T/C—benign
rs56706109320:2,821,415C/G—uncertain significance
rs130541921620:2,821,425A/G—uncertain significance
rs251507078920:2,821,471C/G—uncertain significance
rs11444177720:2,821,528C/T—benign
rs229704720:2,821,601C/T—benign
rs7308322520:2,823,380C/G——
rs18300483520:2,834,460A/Gintron variant—
rs75106099120:2,840,361G/A—likely benign
rs251511361020:2,840,441G/A—uncertain significance
rs20117672720:2,840,447C/T—uncertain significance
rs251511435920:2,840,698A/T—likely pathogenic
rs36764272020:2,840,713C/A—pathogenic
rs140909909420:2,840,755C/G—likely benign
rs76029725220:2,840,756G/A—uncertain significance
rs75360027120:2,840,763A/C—uncertain significance
rs381860520:2,840,773C/T—benign
rs208921158220:2,840,790G/T—uncertain significance
rs229704820:2,840,929G/A—benign
rs20083516020:2,840,930G/A—uncertain significance
rs75913526620:2,841,011A/C—uncertain significance
rs14462134820:2,841,100G/A—likely benign
rs20136153620:2,841,132T/C—uncertain significance
rs54894490520:2,841,136C/T—likely benign
rs75871442020:2,841,152G/A—uncertain significance
rs14258083820:2,841,195C/T—uncertain significance
rs77966516820:2,841,221C/T—uncertain significance
rs208921911120:2,841,419G/T—uncertain significance
rs19967759320:2,841,423G/C—uncertain significance
rs75435170520:2,841,438C/T—conflicting classifications of pathogenicity
rs76109166820:2,841,505C/T—uncertain significance
rs36971743720:2,841,618G/A—likely benign
rs13884427620:2,841,621C/T—likely benign
rs19977964220:2,841,623C/T—uncertain significance
rs251511703020:2,841,661G/A—uncertain significance
rs144563745320:2,841,722G/A—uncertain significance
rs128328896220:2,841,887T/G—uncertain significance
rs94183090620:2,841,892T/C—uncertain significance
rs37681805020:2,841,901C/T—uncertain significance
rs613892020:2,842,102T/C—benign
rs137916088320:2,842,263G/A—uncertain significance
rs77167327320:2,842,268C/T—uncertain significance
rs20148891120:2,842,275G/A—uncertain significance
rs37555430320:2,842,292G/A—uncertain significance
rs20027561820:2,842,331G/A—uncertain significance
rs20179749820:2,842,335C/G—uncertain significance
rs13920967720:2,842,337C/T—uncertain significance
rs14954632420:2,842,455G/A—uncertain significance
rs77675430420:2,842,500C/T—uncertain significance
rs14419459620:2,842,524G/A—uncertain significance
rs605144920:2,842,685A/C—benign
rs143029258420:2,842,713A/T—uncertain significance
rs76995564720:2,842,723A/G—uncertain significance
rs63208020:2,843,053A/G—benign
rs251512177620:2,843,226A/G—uncertain significance
rs97460636320:2,843,241C/T—uncertain significance
rs13952792120:2,843,243G/A—uncertain significance
rs208924470020:2,843,248G/C—uncertain significance
rs20057759920:2,843,255C/T—uncertain significance
rs14241093520:2,843,345A/C—uncertain significance
rs36867133020:2,843,503C/T—likely benign
rs77396421720:2,843,504G/A—uncertain significance
rs77961977920:2,843,565C/T—uncertain significance
rs208925396420:2,843,582T/C—likely pathogenic
rs37311671320:2,843,710G/T—uncertain significance
rs37476966020:2,843,714T/G—pathogenic
rs15049543020:2,843,727A/G—likely benign
rs160000462420:2,843,748T/C—pathogenic
rs251512674920:2,843,937C/T—uncertain significance
rs37719810820:2,843,940G/A—uncertain significance
rs214667321120:2,843,957C/G—likely pathogenic
rs14122676720:2,843,989G/A—uncertain significance
rs20193231320:2,844,017G/C—uncertain significance
rs11208152720:2,844,226T/C—benign
rs77256229420:2,844,628G/T—uncertain significance
rs75243434920:2,844,659C/T—uncertain significance
rs6172923120:2,844,679G/T—uncertain significance
rs36875942220:2,844,827G/T—uncertain significance
rs76266585420:2,844,831G/A—uncertain significance
rs37530267020:2,844,843C/T—uncertain significance
rs20004300120:2,844,847C/T—uncertain significance
rs208928642420:2,844,876A/G—uncertain significance
rs227467120:2,844,911C/T—benign
rs142734273920:2,844,912G/A—uncertain significance
rs78150300720:2,844,918G/A—uncertain significance
rs37284916620:2,845,027G/A—likely benign
rs3465319820:2,845,039C/T—benign
rs37578665020:2,845,104G/A—uncertain significance
rs73081920:2,845,130G/A—benign
rs14046727920:2,845,200A/T—uncertain significance
rs6172923020:2,845,214G/A—likely benign
rs142251903920:2,845,277C/T—pathogenic
rs20008287320:2,845,625G/A—uncertain significance
rs37491426320:2,845,636C/T—conflicting classifications of pathogenicity
rs131153913420:2,845,649T/G—uncertain significance
rs132777124520:2,845,784G/A—uncertain significance
rs77258294620:2,845,813G/A—uncertain significance
rs14991145820:2,845,817C/T—likely benign
rs76587950320:2,845,822G/T—uncertain significance

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

VPS16 — VPS16 core subunit of CORVET and HOPS complexes