GSR

glutathione-disulfide reductase

Summary

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]

Known Variants135 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7584862478:30,537,041C/T—uncertain significance
rs14457983548:30,537,081C/T—uncertain significance
rs3688330498:30,537,106C/T—likely benign
rs3777387548:30,537,113C/A—uncertain significance
rs21287359198:30,537,116A/G—uncertain significance
rs3713805358:30,537,120T/G—uncertain significance
rs81910388:30,537,332A/C—benign
rs7817381098:30,538,401T/C—likely benign
rs18029312998:30,538,447T/C—uncertain significance
rs7694841058:30,538,482G/A—uncertain significance
rs3744691408:30,538,484G/A—likely benign
rs18029340918:30,538,491A/C—uncertain significance
rs7781656368:30,538,506G/A—uncertain significance
rs1996567698:30,538,523A/G—likely benign
rs9976392108:30,538,546T/C—uncertain significance
rs2008213838:30,539,422T/A—uncertain significance
rs15860315828:30,539,440T/C—likely benign
rs3715877938:30,539,451C/T—likely benign
rs7480091328:30,539,465T/C—uncertain significance
rs1997097658:30,539,471T/C—uncertain significance
rs7462434328:30,539,476G/A—uncertain significance
rs7653996798:30,539,536T/G—uncertain significance
rs2016934398:30,539,561G/A—uncertain significance
rs22501928:30,539,623G/T—benign
rs15860337458:30,541,637C/G—pathogenic
rs15860337588:30,541,642T/G—likely benign
rs7567260498:30,541,652C/T—uncertain significance
rs1382869328:30,541,660G/A—likely benign
rs7798308948:30,541,677C/T—uncertain significance
rs5456605568:30,541,678G/A—likely benign
rs3755547868:30,541,684G/A—likely benign
rs756739838:30,541,689T/C—likely benign
rs3677247648:30,541,696C/T—likely benign
rs13276503718:30,541,698T/C—uncertain significance
rs1440977868:30,541,704C/T—uncertain significance
rs14654778:30,541,915C/T—benign
rs39264028:30,541,935A/G—benign
rs25517158:30,546,636T/C—benign
rs9858588858:30,546,668G/T—likely benign
rs1486646398:30,546,696G/C—uncertain significance
rs2012690238:30,546,721A/G—uncertain significance
rs13450360908:30,546,726C/T—pathogenic
rs15635291398:30,546,730A/G—uncertain significance
rs14756513058:30,546,748G/A—uncertain significance
rs81910058:30,546,765T/A—likely benign
rs2017987058:30,546,776C/T—conflicting classifications of pathogenicity
rs3734682108:30,546,811G/A—uncertain significance
rs22534098:30,546,966G/Cregulatory region variantbenign
rs5588986488:30,550,480C/T—conflicting classifications of pathogenicity
rs7620242538:30,550,490G/C—uncertain significance
rs1511878998:30,550,502A/G—conflicting classifications of pathogenicity
rs7508620668:30,550,509C/T—uncertain significance
rs7800546708:30,550,513A/G—likely benign
rs7551934838:30,550,516G/A—likely benign
rs1475743978:30,550,532G/A—uncertain significance
rs18034400878:30,550,538T/G—uncertain significance
rs18034408768:30,550,553G/A—uncertain significance
rs7749307508:30,550,575G/C—likely benign
rs81909978:30,553,911T/C—uncertain significance
rs2001209598:30,553,937G/T—uncertain significance
rs18035439288:30,553,961A/T—uncertain significance
rs24865447528:30,553,983C/T—uncertain significance
rs7564752348:30,553,989C/T—uncertain significance
rs1404559848:30,553,990G/A—likely benign
rs7502348278:30,553,994C/T—uncertain significance
rs1458515008:30,553,995G/A—uncertain significance
rs81909968:30,554,006A/G—benign
rs81909768:30,557,599C/T—conflicting classifications of pathogenicity
rs2012727048:30,557,602G/C—uncertain significance
rs7555789578:30,557,614G/C—uncertain significance
rs21287434038:30,557,645G/C—uncertain significance
rs10402482948:30,560,610C/T—likely pathogenic
rs2000663998:30,560,611G/A—likely benign
rs7606743378:30,560,626A/T—likely benign
rs7534404838:30,560,634T/G—uncertain significance
rs1458346488:30,560,638G/A—likely benign
rs1418056358:30,560,655C/T—conflicting classifications of pathogenicity
rs1471196928:30,560,719C/A—likely benign
rs7661062958:30,560,738C/A—uncertain significance
rs7817228858:30,560,753T/C—uncertain significance
rs81909728:30,560,775A/C—conflicting classifications of pathogenicity
rs37796478:30,560,887C/Tintron variantbenign
rs11849203338:30,565,580C/T—likely benign
rs24865779878:30,565,593G/A—uncertain significance
rs7599550828:30,565,605T/A—uncertain significance
rs7530989578:30,565,623C/T—uncertain significance
rs81909558:30,565,624G/A—benign
rs1505940978:30,565,642G/C—uncertain significance
rs18039794168:30,565,648C/T—uncertain significance
rs1386263358:30,565,653A/G—uncertain significance
rs25517078:30,565,884A/G—benign
rs81909548:30,565,894G/A—benign
rs29786638:30,565,945T/C—benign
rs7778622228:30,567,358G/A—uncertain significance
rs13489771698:30,567,381A/G—uncertain significance
rs286416518:30,567,424A/T—likely benign
rs7751714388:30,567,425A/T—likely benign
rs785821878:30,567,528C/T—benign
rs14463200618:30,569,581T/G—uncertain significance
rs7454044708:30,569,605C/T—uncertain significance

Showing 100 of 135 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.