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NQO2

Synonyms
DHQV, DIA6, NMOR2, QR2
External resources
Summary
This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
386
Likely benign
721
Benign
1,759

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NQO2 gene.

Phenotype class
Patients in 3billion (%)

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