VPS11

VPS11 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 Vps11 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants458 total

rsidPosition (GRCh37)AllelesClassClinVar
rs117762411:118,937,275A/C——
rs93604944411:118,938,540G/C—likely benign
rs91322101611:118,938,543C/T—likely benign
rs148047578311:118,938,544T/C—uncertain significance
rs97923800811:118,938,547C/T—likely benign
rs94631293711:118,938,549G/A—likely benign
rs78208312411:118,938,558G/C—likely benign
rs90739831311:118,938,561C/T—likely benign
rs95659499611:118,938,564C/A—uncertain significance
rs127658839311:118,938,570C/T—likely benign
rs78268989811:118,938,573C/T—likely benign
rs53483093611:118,938,574G/C—uncertain significance
rs105585081511:118,938,579G/A—likely benign
rs78253501911:118,938,582G/A—likely benign
rs86860389911:118,938,586G/C—uncertain significance
rs147726189511:118,938,594G/A—likely benign
rs78242537311:118,938,606T/C—likely benign
rs194518186311:118,938,613G/C—uncertain significance
rs127213868011:118,938,615C/T—likely benign
rs78226275411:118,938,616G/A—uncertain significance
rs194518273411:118,938,618T/C—likely benign
rs14167701811:118,938,621C/T—benign
rs36807994711:118,938,634G/T—uncertain significance
rs159217291211:118,938,638C/T—uncertain significance
rs249726176611:118,938,642A/T—likely benign
rs57484320511:118,938,645C/G—likely benign
rs124347081511:118,938,663T/C—likely benign
rs78181969111:118,938,669C/G—likely benign
rs213473527011:118,938,670C/T—pathogenic
rs78181092311:118,938,684T/C—likely benign
rs78268934811:118,938,693C/T—likely benign
rs167627346811:118,938,709C/T—likely benign
rs36983978411:118,938,711G/C—likely benign
rs128591680711:118,938,717T/C—likely benign
rs118276968911:118,938,732T/A—likely benign
rs15076622211:118,938,813G/C—benign
rs194519340311:118,938,858A/G—uncertain significance
rs58411511:118,938,880A/G—benign
rs101775835911:118,939,888C/T—likely benign
rs78225530411:118,939,901C/G—likely benign
rs91494515111:118,939,909A/C—uncertain significance
rs78200701011:118,939,937G/A—benign
rs78214969411:118,939,955C/T—likely benign
rs18167828811:118,939,973A/G—likely benign
rs52738445711:118,939,974C/T—uncertain significance
rs37359855411:118,939,985C/T—likely benign
rs249727452311:118,939,986C/A—uncertain significance
rs194527804611:118,939,994A/G—likely benign
rs54590930211:118,939,995C/A—uncertain significance
rs37167462211:118,940,048C/T—likely benign
rs249727502211:118,940,049C/T—uncertain significance
rs155520179111:118,940,062C/T—conflicting classifications of pathogenicity
rs249727521311:118,940,064A/G—likely benign
rs249727525411:118,940,070G/A—likely benign
rs249727526511:118,940,074T/C—likely benign
rs194528406211:118,940,132C/T—likely benign
rs144561313911:118,940,135C/T—likely benign
rs249727593211:118,940,136T/C—likely benign
rs134209807911:118,940,144G/C—likely benign
rs78214464611:118,940,147C/T—likely benign
rs249727615911:118,940,160C/T—likely benign
rs78281712911:118,940,166C/T—likely benign
rs129631896311:118,940,167C/T—likely benign
rs137559723211:118,940,175G/A—likely benign
rs18587939711:118,940,181T/C—likely benign
rs20088749911:118,940,182G/A—conflicting classifications of pathogenicity
rs145496619811:118,940,187C/A—likely benign
rs78243689511:118,940,198G/T—uncertain significance
rs159217778411:118,940,202T/A—likely benign
rs78229488611:118,940,208C/A—likely benign
rs78237170211:118,940,211C/G—uncertain significance
rs249727698411:118,940,232G/A—likely benign
rs78221406811:118,940,268T/C—likely benign
rs54983390911:118,940,278A/C—benign
rs194529019111:118,940,285T/A—uncertain significance
rs121772033211:118,940,295G/C—likely benign
rs249727750311:118,940,296A/G—likely benign
rs249727755111:118,940,304A/C—likely benign
rs194529049011:118,940,305C/T—likely benign
rs37058211011:118,940,929C/T—benign
rs123508375611:118,940,950C/T—uncertain significance
rs178430211:118,940,957C/T—likely benign
rs78231400611:118,940,961G/A—uncertain significance
rs19113326711:118,940,967T/C—likely benign
rs117832340111:118,940,972C/T—likely benign
rs249728335911:118,940,984C/T—likely benign
rs78200920811:118,940,988C/T—uncertain significance
rs37716489711:118,940,994C/T—uncertain significance
rs78222360711:118,941,004A/G—uncertain significance
rs98699994711:118,941,028A/C—uncertain significance
rs78192164011:118,941,035T/C—likely benign
rs156573750011:118,941,050C/T—uncertain significance
rs20160662911:118,941,057C/G—uncertain significance
rs57015169711:118,941,059A/G—likely benign
rs92190917711:118,941,064G/T—uncertain significance
rs249728412311:118,941,065A/G—likely benign
rs78273086811:118,941,080G/A—likely benign
rs136633681611:118,941,089G/A—likely benign
rs36938983711:118,941,101C/T—likely benign
rs194533225611:118,941,119G/C—likely benign

Showing 100 of 458 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.