VPS18

VPS18 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 Vps18 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. [provided by RefSeq, Jul 2008]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs130746418015:41,187,010C/Tuncertain significance
rs77160436515:41,187,020G/Tuncertain significance
rs254250471715:41,188,161G/Tuncertain significance
rs254250478815:41,188,205C/Tuncertain significance
rs77659658015:41,188,225G/Cuncertain significance
rs136789202115:41,191,107T/Cuncertain significance
rs74926346015:41,191,169G/Auncertain significance
rs75720632315:41,191,174C/Auncertain significance
rs74564933015:41,191,179T/Cuncertain significance
rs74720812015:41,191,384A/Guncertain significance
rs76136838315:41,191,386G/Auncertain significance
rs78131470115:41,191,393G/Auncertain significance
rs88716737415:41,191,459A/Guncertain significance
rs76383740415:41,191,470G/Auncertain significance
rs76476060515:41,191,480G/Auncertain significance
rs75525042415:41,191,506A/Tuncertain significance
rs135105742315:41,191,509G/Auncertain significance
rs55316282415:41,191,536C/Guncertain significance
rs133995810515:41,191,564G/Tuncertain significance
rs75027174115:41,191,573C/Tuncertain significance
rs136138508715:41,191,804G/Auncertain significance
rs75213851115:41,191,921C/Tuncertain significance
rs77104470615:41,192,104T/Cuncertain significance
rs189231546515:41,192,157T/Cuncertain significance
rs129703994415:41,192,178C/Tuncertain significance
rs20222219515:41,192,187G/Tuncertain significance
rs254251216415:41,192,197A/Guncertain significance
rs37612613115:41,192,235C/Tuncertain significance
rs37336774215:41,192,287C/Tuncertain significance
rs36967007715:41,192,298C/Tuncertain significance
rs77005964615:41,192,299G/Auncertain significance
rs254251246715:41,192,305C/Tuncertain significance
rs37479837415:41,192,309T/Auncertain significance
rs189232569715:41,192,446T/Guncertain significance
rs77145055915:41,192,470G/Auncertain significance
rs76136772915:41,192,507G/Cuncertain significance
rs76617735315:41,192,520C/Tuncertain significance
rs7953649715:41,192,540C/Tlikely benign
rs77254023315:41,192,580T/Clikely benign
rs14840836915:41,192,613A/Cuncertain significance
rs189233147715:41,192,614A/Guncertain significance
rs127542612415:41,192,767C/Tuncertain significance
rs37744846815:41,192,814C/Tuncertain significance
rs3486565515:41,192,839G/Alikely benign
rs189233873915:41,192,874C/Tuncertain significance
rs77092016715:41,193,000G/Auncertain significance
rs75005134815:41,193,039C/Guncertain significance
rs76261208315:41,193,040G/Alikely benign
rs254251441815:41,193,052T/Guncertain significance
rs37308398015:41,193,090C/Tuncertain significance
rs77892308615:41,193,097A/Guncertain significance
rs76709820615:41,193,129G/Auncertain significance
rs75365909215:41,193,147C/Tuncertain significance
rs1291497315:41,193,149C/Tlikely benign
rs144187912315:41,194,903C/Guncertain significance
rs14192994815:41,194,926T/Cuncertain significance
rs15074919815:41,194,927A/Gbenign
rs189238925715:41,195,236G/Tuncertain significance
rs254251866615:41,195,241A/Guncertain significance
rs76987824015:41,195,340C/Tuncertain significance
rs140751140315:41,195,391C/Tuncertain significance
rs55904951715:41,195,474C/Guncertain significance
rs14362972015:41,195,483G/Auncertain significance
rs19964204515:41,195,487G/Auncertain significance
rs74630247315:41,195,498G/Tuncertain significance
rs803696515:41,196,329T/Gregulatory region variant
rs803608015:41,196,384G/Aregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.