TUSC3

tumor suppressor candidate 3

Summary

This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]

Known Variants236 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18016212178:15,397,582A/G—uncertain significance
rs8860627608:15,397,636G/T—uncertain significance
rs8860627618:15,397,637C/G—uncertain significance
rs8860627628:15,397,651A/G—uncertain significance
rs38107738:15,397,667G/A—likely benign
rs7756418638:15,397,686C/A—uncertain significance
rs8860627638:15,397,734C/T—uncertain significance
rs8860627658:15,397,749C/T—uncertain significance
rs5738720138:15,397,750C/T—uncertain significance
rs8860627678:15,397,773G/A—uncertain significance
rs8860627688:15,397,781C/T—uncertain significance
rs8860627698:15,397,790C/T—uncertain significance
rs8860627708:15,397,810C/G—uncertain significance
rs125500098:15,397,820C/T—benign
rs14797842198:15,397,829C/A—uncertain significance
rs5634369448:15,397,832G/A—likely benign
rs70123108:15,397,849G/A—likely benign
rs787895808:15,397,852T/G—likely benign
rs1130418468:15,397,853T/C—likely benign
rs5286983018:15,397,858A/G—uncertain significance
rs7791464878:15,397,889G/A—uncertain significance
rs7508990518:15,397,892C/T—uncertain significance
rs7499983358:15,397,894G/C—uncertain significance
rs13552537398:15,397,936C/T—uncertain significance
rs8860627718:15,397,942G/A—uncertain significance
rs2014699898:15,397,954C/A—likely benign
rs12113044908:15,397,956C/T—uncertain significance
rs2017419178:15,397,958C/T—uncertain significance
rs14201539738:15,397,962C/T—uncertain significance
rs7558081998:15,397,964C/G—uncertain significance
rs24863759978:15,397,965G/T—uncertain significance
rs7786677598:15,397,970A/G—uncertain significance
rs2008083728:15,397,977C/T—uncertain significance
rs7606910148:15,397,983G/C—uncertain significance
rs21291324478:15,397,992G/A—uncertain significance
rs7507277698:15,398,001C/G—uncertain significance
rs14548702598:15,398,006G/A—uncertain significance
rs5451071358:15,398,024C/T—uncertain significance
rs786263308:15,398,026C/T—likely benign
rs115450378:15,398,032G/C—likely benign
rs3700969248:15,398,033C/T—likely benign
rs3748350908:15,398,044C/T—likely benign
rs24863783478:15,398,054G/C—uncertain significance
rs7800231668:15,398,055G/C—uncertain significance
rs1170457598:15,398,151A/G—benign
rs283783768:15,398,245G/A—benign
rs1437340518:15,411,895T/Aregulatory region variant—
rs1404040208:15,418,994G/Aregulatory region variant—
rs715007188:15,434,456G/A——
rs1479632068:15,458,737C/Aintron variant—
rs1483795008:15,474,249G/Cintron variant—
rs119946548:15,480,328T/A—benign
rs18642348:15,480,375G/C—benign
rs10331125268:15,480,583T/C—likely benign
rs14507233748:15,480,592C/A—uncertain significance
rs7678814168:15,480,609A/C—likely benign
rs24863622818:15,480,612G/T—uncertain significance
rs3879068048:15,480,613C/Tstop gainedpathogenic
rs10305413128:15,480,618G/C—likely benign
rs7517854058:15,480,637C/T—uncertain significance
rs18053259138:15,480,638G/C—uncertain significance
rs7513179818:15,480,639C/G—uncertain significance
rs115450358:15,480,643A/G—likely benign
rs12518811948:15,480,670C/T—likely pathogenic
rs7493363678:15,480,671G/A—uncertain significance
rs3677825658:15,480,688C/G—uncertain significance
rs7770683728:15,480,694C/T—pathogenic
rs7625420378:15,480,705C/G—likely benign
rs7592968918:15,480,709A/G—uncertain significance
rs7671690408:15,480,716T/C—uncertain significance
rs13440044598:15,480,733C/G—uncertain significance
rs7777632988:15,480,740G/A—uncertain significance
rs10563519208:15,480,754T/C—uncertain significance
rs7789939338:15,480,761A/G—uncertain significance
rs7486210478:15,508,190C/T—likely benign
rs2013251368:15,508,191C/G—benign
rs7715416068:15,508,198C/G—likely benign
rs10359728:15,508,200T/C—benign
rs7639001808:15,508,202T/C—likely benign
rs7763869838:15,508,203C/G—uncertain significance
rs1391635668:15,508,227A/G—likely benign
rs7517670958:15,508,235C/T—uncertain significance
rs14395428328:15,508,299T/C—likely benign
rs7628317518:15,508,305G/A—conflicting classifications of pathogenicity
rs2010051088:15,508,311C/A—uncertain significance
rs7576830538:15,508,336A/T—uncertain significance
rs5740089308:15,508,338C/T—uncertain significance
rs38275078:15,508,339G/A—likely benign
rs19750588:15,508,431G/A—benign
rs731951298:15,508,519C/G—benign
rs3545068:15,516,773C/T—benign
rs10488968:15,517,051T/C—likely benign
rs7667920128:15,517,056C/G—uncertain significance
rs7669239478:15,517,065G/A—uncertain significance
rs18073287258:15,517,071A/G—uncertain significance
rs7970460808:15,517,073A/G—uncertain significance
rs7489836878:15,517,093C/G—likely benign
rs18073312508:15,517,118C/T—pathogenic
rs21291790908:15,517,123A/G—likely benign
rs24867027668:15,517,125C/T—uncertain significance

Showing 100 of 236 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

TUSC3 — tumor suppressor candidate 3