VPS33B

VPS33B late endosome and lysosome associated

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 is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants371 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77569788315:91,541,859T/A—uncertain significance
rs88605155415:91,541,943A/C—uncertain significance
rs104641836715:91,541,944A/T—uncertain significance
rs88605155515:91,542,050T/C—uncertain significance
rs7640168815:91,542,080G/A—uncertain significance
rs53926049615:91,542,092C/T—uncertain significance
rs75982501315:91,542,195G/A—uncertain significance
rs14575975415:91,542,208G/A—conflicting classifications of pathogenicity
rs75588241015:91,542,243C/T—uncertain significance
rs77994806915:91,542,244G/A—likely benign
rs76864829515:91,542,245C/T—uncertain significance
rs77111908115:91,542,253G/T—likely benign
rs137263009815:91,542,262C/T—likely benign
rs57662672615:91,542,263G/A—uncertain significance
rs20212540715:91,542,277C/T—likely benign
rs86835471315:91,542,279T/C—conflicting classifications of pathogenicity
rs54440124215:91,542,291A/G—likely benign
rs37420262115:91,542,298T/C—conflicting classifications of pathogenicity
rs374344915:91,542,337C/T—benign
rs11256597215:91,542,516A/G—benign
rs11154536615:91,542,739G/C—benign
rs14781726615:91,542,795T/C—benign
rs13956526515:91,542,801C/T—benign
rs254419969515:91,542,898C/T—likely benign
rs14781468615:91,542,927C/T—uncertain significance
rs20143691515:91,542,932G/A—conflicting classifications of pathogenicity
rs254419992615:91,542,938G/A—likely benign
rs159634829915:91,542,955A/G—pathogenic
rs254419999015:91,542,956A/C—likely benign
rs75255704415:91,542,959A/G—likely benign
rs204037904315:91,542,962C/G—uncertain significance
rs14509272415:91,542,967A/C—conflicting classifications of pathogenicity
rs14699965315:91,542,980G/A—likely benign
rs77489433215:91,542,985G/A—uncertain significance
rs56663036415:91,542,996C/A—uncertain significance
rs204038124015:91,543,009C/G—uncertain significance
rs14807124615:91,543,010T/C—benign
rs254420034415:91,543,016A/T—likely benign
rs215166230315:91,543,024C/A—uncertain significance
rs37537610315:91,543,030G/A—conflicting classifications of pathogenicity
rs76409238015:91,543,038C/A—likely benign
rs11509275515:91,543,059C/T—likely benign
rs77239352215:91,543,126A/C—uncertain significance
rs1694515315:91,543,131T/A—benign
rs77040860215:91,543,133T/G—uncertain significance
rs77616237115:91,543,134G/A—likely benign
rs138661704415:91,543,137T/C—likely benign
rs254420099915:91,543,152G/C—uncertain significance
rs76283498515:91,543,162C/T—uncertain significance
rs145078929515:91,543,163G/T—likely benign
rs88604344515:91,543,171——pathogenic
rs254420112415:91,543,183T/C—uncertain significance
rs215166249615:91,543,185C/T—likely pathogenic
rs37369233315:91,543,192C/T—uncertain significance
rs12143438315:91,543,193G/Astop gainedpathogenic
rs75881492915:91,543,196G/A—uncertain significance
rs37694870115:91,543,199C/G—uncertain significance
rs57145396315:91,543,279G/C—likely benign
rs1185830615:91,543,407C/T—benign
rs11255116615:91,543,520C/T—benign
rs14542498715:91,543,537G/T—likely benign
rs14920873415:91,543,554G/C—likely benign
rs7946801015:91,543,638A/C—likely benign
rs13891805915:91,543,641A/C—likely benign
rs254420352615:91,543,726A/T—likely benign
rs76451829115:91,543,733C/T—uncertain significance
rs75198286115:91,543,734G/C—uncertain significance
rs182530182215:91,543,742A/G—uncertain significance
rs74532853115:91,543,744G/C—likely benign
rs1107396415:91,543,761C/Gmissense variantuncertain significance
rs76825054115:91,543,767C/T—uncertain significance
rs77422991315:91,543,768G/A—likely benign
rs129097953015:91,543,772G/A—uncertain significance
rs77209629615:91,543,781C/T—uncertain significance
rs77330600015:91,543,782G/A—pathogenic
rs116346101415:91,543,797C/T—uncertain significance
rs20053980215:91,543,800A/G—uncertain significance
rs75185860215:91,543,803C/A—pathogenic
rs75089644015:91,543,806C/T—uncertain significance
rs254420405115:91,543,833A/T—likely benign
rs20034838215:91,543,841C/T—likely benign
rs1289981115:91,544,076A/Gintron variantbenign
rs7275932115:91,544,417A/G—benign
rs121934977515:91,544,601C/T—likely benign
rs75334848615:91,544,611C/A—likely benign
rs155545818915:91,544,618C/T—pathogenic
rs75446912115:91,544,636T/G—uncertain significance
rs14160185115:91,544,644C/T—uncertain significance
rs204043558115:91,544,678C/G—uncertain significance
rs159635059515:91,544,691T/G—likely benign
rs124208193015:91,544,705T/C—likely benign
rs147473845515:91,544,706C/G—likely benign
rs37364953015:91,544,712C/G—likely benign
rs1243988715:91,544,831C/T—benign
rs1107396515:91,544,845C/T—benign
rs3529021615:91,544,900C/T—benign
rs374344815:91,545,211C/T—benign
rs11678795915:91,545,244C/T—likely benign
rs77757805515:91,545,264T/C—likely benign
rs204045341415:91,545,270C/T—likely benign

Showing 100 of 371 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.