NQO1

NAD(P)H quinone dehydrogenase 1

Summary

This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants219 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37241741416:69,744,880C/T—likely benign
rs254431764716:69,744,887T/C—uncertain significance
rs254431765716:69,744,888A/T—likely benign
rs254431767316:69,744,895A/T—uncertain significance
rs3444715616:69,744,897C/G—likely benign
rs254431770116:69,744,903G/A—likely benign
rs254431770916:69,744,904T/A—uncertain significance
rs254431771416:69,744,905C/T—uncertain significance
rs141588999016:69,744,906A/G—likely benign
rs254431772616:69,744,909T/G—likely benign
rs254431773416:69,744,912G/A—likely benign
rs254431774716:69,744,915G/T—likely benign
rs139468301616:69,744,916G/C—uncertain significance
rs76946378916:69,744,917A/T—uncertain significance
rs118754849316:69,744,919T/C—uncertain significance
rs56130014616:69,744,921G/C—likely benign
rs203803104816:69,744,924C/A—uncertain significance
rs76249579516:69,744,927G/A—likely benign
rs254431780216:69,744,929G/A—uncertain significance
rs102047580916:69,744,930A/G—likely benign
rs76813873616:69,744,931T/C—uncertain significance
rs128330454116:69,744,932G/A—uncertain significance
rs135204944016:69,744,935C/T—uncertain significance
rs127345728016:69,744,938C/T—uncertain significance
rs121623821416:69,744,939A/G—likely benign
rs77367045016:69,744,944G/A—uncertain significance
rs254431786316:69,744,945G/A—likely benign
rs254431787116:69,744,948A/C—uncertain significance
rs254431790416:69,744,954C/A—uncertain significance
rs75083170316:69,744,963C/T—likely benign
rs203803193816:69,744,965C/T—uncertain significance
rs254431796516:69,744,967T/C—uncertain significance
rs254431797716:69,744,969A/T—likely benign
rs254431798216:69,744,971C/G—uncertain significance
rs128353534816:69,744,984T/A—uncertain significance
rs89290113716:69,744,987C/A—uncertain significance
rs95357521716:69,744,999T/C—likely benign
rs254431810716:69,745,000G/C—uncertain significance
rs254431811816:69,745,002C/A—uncertain significance
rs75410167716:69,745,007A/G—uncertain significance
rs124043349916:69,745,011T/G—likely benign
rs118300926716:69,745,013G/A—likely benign
rs14963472416:69,745,014G/A—likely benign
rs54056385916:69,745,015T/G—uncertain significance
rs102242196716:69,745,020G/C—likely benign
rs138977470816:69,745,026G/T—uncertain significance
rs132213546716:69,745,034C/A—uncertain significance
rs76955254616:69,745,036A/G—uncertain significance
rs215174160616:69,745,041C/T—likely benign
rs215174161116:69,745,043G/T—uncertain significance
rs121089175716:69,745,047T/C—likely benign
rs215174163016:69,745,053A/T—uncertain significance
rs144654850916:69,745,059A/G—likely benign
rs121086676716:69,745,063T/C—uncertain significance
rs203803444416:69,745,065C/T—likely benign
rs76119248116:69,745,068C/T—likely benign
rs11411242216:69,745,073G/A—uncertain significance
rs254431865116:69,745,083T/G—likely benign
rs115999152316:69,745,089C/G—likely benign
rs37583624816:69,745,092G/T—likely benign
rs215174172816:69,745,095T/C—likely benign
rs76684726816:69,745,102C/A—uncertain significance
rs203803567116:69,745,105G/A—uncertain significance
rs11459078016:69,745,107G/A—likely benign
rs215174178316:69,745,111G/T—uncertain significance
rs135094296816:69,745,114G/C—uncertain significance
rs130300228016:69,745,117G/T—uncertain significance
rs19990493816:69,745,119G/A—likely benign
rs215174181116:69,745,121G/C—uncertain significance
rs215174181316:69,745,122C/T—likely benign
rs215174182216:69,745,125A/C—uncertain significance
rs14518722116:69,745,126A/G—uncertain significance
rs215174183116:69,745,127T/G—uncertain significance
rs75034381016:69,745,128G/A—likely benign
rs215174184416:69,745,130T/A—uncertain significance
rs75596773616:69,745,131A/G—likely benign
rs215174185916:69,745,135G/T—uncertain significance
rs215174186716:69,745,139G/A—likely benign
rs13895818816:69,745,140T/C—likely benign
rs128083915516:69,745,143A/G—likely benign
rs180056616:69,745,145G/Amissense variantuncertain significance
rs155553745116:69,745,157G/A—likely pathogenic
rs14631747916:69,745,161G/A—likely benign
rs203803699416:69,745,169A/T—likely pathogenic
rs149083679416:69,745,173C/T—likely benign
rs215174195016:69,745,174A/C—uncertain significance
rs136353549216:69,745,175G/C—uncertain significance
rs76006002416:69,745,183C/T—uncertain significance
rs15061160316:69,746,936T/C—uncertain significance
rs254432239616:69,746,939G/T—uncertain significance
rs76443653116:69,746,945G/C—uncertain significance
rs215174283416:69,746,949G/A—likely benign
rs121196951616:69,746,961C/A—likely benign
rs20178712716:69,746,963C/T—uncertain significance
rs37084383116:69,746,964G/A—likely benign
rs254432251316:69,746,976C/G—likely benign
rs77444952616:69,746,982G/A—likely benign
rs254432258216:69,746,994A/G—likely benign
rs203806281716:69,746,995C/T—uncertain significance
rs139194413516:69,747,009G/A—likely benign

Showing 100 of 219 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.