QSOX1

quiescin sulfhydryl oxidase 1

Summary

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants64 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3767720001:180,123,891T/G
rs12722863321:180,124,050G/Auncertain significance
rs12301856691:180,124,073C/Tuncertain significance
rs7632244191:180,124,077C/Tuncertain significance
rs7678687381:180,124,110C/Tuncertain significance
rs12707998221:180,124,133C/Tuncertain significance
rs5507094521:180,124,136C/Tuncertain significance
rs10284095751:180,124,163C/Auncertain significance
rs11593273301:180,124,188C/Auncertain significance
rs776471371:180,124,288G/Tsynonymous variant
rs14389086481:180,124,293C/Auncertain significance
rs559469071:180,130,723C/Tintron variant
rs10574418381:180,135,644A/Guncertain significance
rs2018250481:180,135,652G/Auncertain significance
rs1492699031:180,135,672G/Cuncertain significance
rs7720424311:180,135,683C/Tuncertain significance
rs38942111:180,135,701A/Gbenign
rs1504721981:180,137,839A/Gregulatory region variant
rs5389178321:180,144,470T/Clikely benign
rs3776978281:180,144,480G/Auncertain significance
rs2008993481:180,145,132C/Tuncertain significance
rs7756001381:180,145,152C/Tuncertain significance
rs3746976971:180,147,922C/Tlikely benign
rs7683275181:180,147,961A/Guncertain significance
rs7746809581:180,147,994A/Cuncertain significance
rs1494845541:180,151,349G/Auncertain significance
rs7736451751:180,151,373A/Guncertain significance
rs14650952991:180,153,068C/Tuncertain significance
rs3773587221:180,153,070T/Cuncertain significance
rs7605471951:180,153,074A/Guncertain significance
rs1409699991:180,153,134C/Guncertain significance
rs2008081491:180,155,259C/Tuncertain significance
rs1443654851:180,155,323C/Abenign
rs1471741331:180,158,740G/Tuncertain significance
rs617362971:180,159,621G/Abenign
rs3763233391:180,159,648G/Alikely benign
rs1482896601:180,163,385C/Tlikely benign
rs7784008971:180,163,436G/Auncertain significance
rs5466834251:180,163,456G/Auncertain significance
rs1433372471:180,163,458G/Auncertain significance
rs15720559221:180,163,459T/Auncertain significance
rs3704550421:180,163,476G/Tuncertain significance
rs1117384461:180,165,387C/Tbenign
rs7746849771:180,165,445G/Tuncertain significance
rs7772669801:180,165,489G/Auncertain significance
rs16634888781:180,165,547T/Auncertain significance
rs13339674881:180,165,561C/Guncertain significance
rs25280903831:180,165,604C/Tuncertain significance
rs3712765001:180,165,648C/Tuncertain significance
rs14212331311:180,165,657A/Guncertain significance
rs3688690481:180,165,666C/Tuncertain significance
rs25280906051:180,165,678G/Auncertain significance
rs3777014091:180,165,709C/Guncertain significance
rs1457082341:180,165,718C/Tbenign
rs168554661:180,165,742G/Cbenign
rs1880754161:180,165,772C/Tuncertain significance
rs1998224371:180,165,835C/Tuncertain significance
rs11570503021:180,165,871G/Auncertain significance
rs15720576321:180,165,873G/Tuncertain significance
rs37381141:180,165,947C/Abenign
rs5392088341:180,166,136G/Cuncertain significance
rs11910269861:180,166,140C/Guncertain significance
rs3724950971:180,166,150A/Guncertain significance
rs46524821:180,166,631G/A3 prime UTR variant

Gene information from NCBI Gene. Variant classifications from ClinVar.