NFE2L2

NFE2 like bZIP transcription factor 2

Summary

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]

Known Variants277 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10151059972:178,095,520T/C—uncertain significance
rs5583137592:178,095,522C/T—likely benign
rs24682824912:178,095,529T/A—uncertain significance
rs16895150412:178,095,533G/C—benign
rs21054507782:178,095,546G/C—likely benign
rs7476402582:178,095,562T/C—benign
rs24682826332:178,095,566C/T—uncertain significance
rs2007508002:178,095,603A/G—likely benign
rs3768176142:178,095,605A/G—conflicting classifications of pathogenicity
rs7533137852:178,095,615A/G—likely benign
rs7618394472:178,095,621A/G—likely benign
rs7653216682:178,095,625C/T—uncertain significance
rs7505532722:178,095,626G/A—uncertain significance
rs9258301382:178,095,635T/C—benign
rs21054510322:178,095,641C/T—uncertain significance
rs7513576292:178,095,645G/A—likely benign
rs3678731422:178,095,646A/C—uncertain significance
rs3720100342:178,095,651T/A—uncertain significance
rs7556399762:178,095,663T/C—likely benign
rs7773611762:178,095,665G/T—uncertain significance
rs7488127002:178,095,672C/T—likely benign
rs13847193252:178,095,677G/A—likely benign
rs5641435782:178,095,684G/A—likely benign
rs21054511792:178,095,698C/G—uncertain significance
rs13523742882:178,095,707C/T—uncertain significance
rs9814758362:178,095,738A/G—likely benign
rs7623202402:178,095,740G/T—uncertain significance
rs5315582262:178,095,747A/G—likely benign
rs7733377522:178,095,768A/G—likely benign
rs24682833762:178,095,804C/G—likely benign
rs14234699082:178,095,825A/G—likely benign
rs3699981892:178,095,834C/T—benign
rs7561297172:178,095,844G/C—uncertain significance
rs21054515992:178,095,874G/C—uncertain significance
rs3748369622:178,095,882T/C—likely benign
rs7508322522:178,095,885G/A—likely benign
rs7785860932:178,095,886T/C—uncertain significance
rs16895296682:178,095,893C/G—uncertain significance
rs16895306632:178,095,906G/C—uncertain significance
rs24682842002:178,095,978C/T—likely benign
rs1812941882:178,095,985C/T—benign
rs2018715882:178,095,986G/A—uncertain significance
rs24682843262:178,096,002T/C—likely benign
rs16895381302:178,096,017T/G—uncertain significance
rs7567404972:178,096,024T/C—uncertain significance
rs3759722112:178,096,028C/G—uncertain significance
rs3706451062:178,096,030G/C—uncertain significance
rs7797404872:178,096,033C/T—uncertain significance
rs7484912292:178,096,037C/G—uncertain significance
rs13210238322:178,096,041C/G—benign
rs1892382362:178,096,043A/G—likely benign
rs2015602212:178,096,048T/C—uncertain significance
rs7666789082:178,096,057G/T—uncertain significance
rs16895401372:178,096,059G/A—likely benign
rs21054522242:178,096,061T/C—uncertain significance
rs1822767752:178,096,062C/A—uncertain significance
rs9537840082:178,096,068T/A—benign
rs24682846572:178,096,070G/A—uncertain significance
rs24682846832:178,096,077A/G—likely benign
rs3711882072:178,096,083G/A—likely benign
rs12572108272:178,096,086A/C—likely benign
rs7605035182:178,096,099T/A—uncertain significance
rs21054523562:178,096,100G/A—uncertain significance
rs21054523602:178,096,103A/G—benign
rs7683552302:178,096,105G/A—uncertain significance
rs7499220652:178,096,127C/A—uncertain significance
rs13973902142:178,096,129C/T—benign
rs24682849912:178,096,136A/G—benign
rs7512448292:178,096,138T/G—uncertain significance
rs21054524992:178,096,142C/T—benign
rs7780154242:178,096,157C/T—uncertain significance
rs7577039262:178,096,161C/T—likely benign
rs21054525522:178,096,163G/C—uncertain significance
rs2004942922:178,096,165T/C—likely benign
rs7723068492:178,096,168A/G—conflicting classifications of pathogenicity
rs7617253012:178,096,203A/G—likely benign
rs13779546242:178,096,209A/G—likely benign
rs3718150862:178,096,221T/C—likely benign
rs5877785552:178,096,225G/A—uncertain significance
rs7624118312:178,096,234T/C—uncertain significance
rs21054527722:178,096,236G/A—likely benign
rs21054528512:178,096,255T/C—uncertain significance
rs16895488862:178,096,256G/A—uncertain significance
rs7576758322:178,096,281T/C—likely benign
rs7795195922:178,096,283T/A—uncertain significance
rs2002096922:178,096,287T/C—likely benign
rs3688614682:178,096,290T/G—likely benign
rs7471791422:178,096,298C/G—likely benign
rs350075482:178,096,299G/A—likely benign
rs7815263662:178,096,302G/A—likely benign
rs7478738422:178,096,305A/G—likely benign
rs1996734542:178,096,309T/A—conflicting classifications of pathogenicity
rs7552299162:178,096,312T/C—uncertain significance
rs14619412022:178,096,313T/G—uncertain significance
rs21054530822:178,096,314G/C—uncertain significance
rs13736551772:178,096,324G/C—uncertain significance
rs7670587592:178,096,337G/A—uncertain significance
rs24682858552:178,096,344G/A—likely benign
rs7620467952:178,096,351G/C—uncertain significance
rs24682859322:178,096,361G/A—uncertain significance

Showing 100 of 277 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.