USP8

ubiquitin specific peptidase 8

Summary

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants157 total

rsidPosition (GRCh37)AllelesClassClinVar
rs717401515:50,717,068G/T——
rs7273895915:50,722,406C/Tintron variant—
rs1163269715:50,731,213G/C—benign
rs159590424015:50,731,294T/C—likely benign
rs14188694515:50,731,306C/T—likely benign
rs118659353115:50,731,379G/C—uncertain significance
rs1163270815:50,731,390C/T—benign
rs36955245815:50,731,391G/A—likely benign
rs37317198215:50,731,394A/G—likely benign
rs1185718515:50,734,296C/Tintron variant—
rs36984295115:50,741,582T/C—likely benign
rs19958607115:50,741,589A/C—benign
rs132258856815:50,741,601A/C—uncertain significance
rs77952026315:50,741,615C/T—uncertain significance
rs18334164515:50,741,644C/A—likely benign
rs214126592015:50,741,664C/G—uncertain significance
rs37346054315:50,741,686C/G—uncertain significance
rs76171119815:50,741,689A/G—uncertain significance
rs3426929215:50,745,423A/Gregulatory region variant—
rs20213504515:50,751,258C/T—uncertain significance
rs11454173115:50,751,261C/T—benign
rs74784244815:50,751,340C/G—uncertain significance
rs77429022715:50,751,355A/T—uncertain significance
rs7960599915:50,754,464T/C—likely benign
rs57201814815:50,754,491G/C—uncertain significance
rs14712199415:50,754,493A/G—uncertain significance
rs74821994015:50,754,508C/G—uncertain significance
rs14131009715:50,754,528G/A—likely benign
rs57479747515:50,757,225T/C—likely benign
rs53487826215:50,757,266A/G—likely benign
rs36836557715:50,757,280C/T—uncertain significance
rs14774229215:50,757,285A/G—benign
rs93752414515:50,757,289A/C—uncertain significance
rs15024538615:50,757,336G/A—likely benign
rs14069555015:50,757,361G/A—uncertain significance
rs74609045015:50,763,891A/C—likely benign
rs37087623515:50,763,905G/A—likely benign
rs77265589015:50,763,918C/A—uncertain significance
rs6175106215:50,763,945T/A—uncertain significance
rs105236326815:50,763,951A/G—uncertain significance
rs75268293615:50,763,966C/T—uncertain significance
rs37685267415:50,763,967G/A—uncertain significance
rs11752910915:50,764,409G/A——
rs14307018115:50,769,061G/A—uncertain significance
rs13814833915:50,769,082G/A—uncertain significance
rs58777720115:50,769,124C/A—uncertain significance
rs57403021615:50,769,160C/T—uncertain significance
rs14820096915:50,769,161G/A—uncertain significance
rs147888060615:50,769,493T/C—likely benign
rs20217481615:50,769,500A/G—uncertain significance
rs6173386915:50,769,520A/G—benign
rs205160064215:50,769,528G/T—uncertain significance
rs56140321315:50,769,530C/T—benign
rs119685632615:50,769,531G/A—likely benign
rs76880046015:50,769,562A/G—uncertain significance
rs75084341515:50,769,568T/C—likely benign
rs135924935215:50,769,598C/A—uncertain significance
rs37370491615:50,769,607A/G—uncertain significance
rs75589657115:50,769,626C/A—uncertain significance
rs254195510515:50,769,629T/A—uncertain significance
rs15056894815:50,769,640A/G—benign
rs77674725015:50,769,691C/T—uncertain significance
rs124250995015:50,769,713A/T—likely benign
rs1769627715:50,770,254A/Gintron variant—
rs1205059415:50,772,736A/Tintron variant—
rs145987385215:50,773,658C/G—likely benign
rs77884461615:50,773,673T/C—likely benign
rs313156115:50,773,755G/G—benign
rs37302501215:50,773,758A/G—likely benign
rs77513027415:50,773,769G/A—uncertain significance
rs374304415:50,773,787A/G—benign
rs14824404115:50,773,789C/T—conflicting classifications of pathogenicity
rs13991275715:50,773,824C/T—likely benign
rs75492159515:50,773,893A/G—likely benign
rs11597061015:50,773,907G/A—benign
rs76139575115:50,773,919A/G—uncertain significance
rs14265388715:50,773,923G/A—benign
rs11316991315:50,773,975A/C—benign
rs77896987615:50,773,990G/C—uncertain significance
rs74628941215:50,773,999A/G—uncertain significance
rs254196429415:50,774,010G/A—likely benign
rs214130480415:50,774,012A/C—uncertain significance
rs205178425615:50,774,032A/T—uncertain significance
rs76816727915:50,774,056G/A—uncertain significance
rs254196450115:50,774,079C/T—likely benign
rs128809844215:50,774,133A/T—uncertain significance
rs19297767415:50,774,134C/T—benign
rs214130497715:50,774,151C/G—likely benign
rs75559152815:50,774,185C/T—uncertain significance
rs37073601015:50,774,232A/C—likely benign
rs103967013415:50,774,234C/T—uncertain significance
rs313156015:50,775,562T/Cintron variant—
rs74544423415:50,776,508C/T—likely benign
rs1022084315:50,776,525T/C—benign
rs205187780115:50,776,527G/A—uncertain significance
rs37585568015:50,776,540C/T—likely benign
rs76851458915:50,776,541G/A—uncertain significance
rs37071628315:50,776,546C/T—likely benign
rs136163200315:50,781,981T/A—likely benign
rs75431167015:50,782,003A/G—likely benign

Showing 100 of 157 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.