NUDT15 (Q9NV35) variants and mutations

NUDT15 (also known as Q9NV35) is a human protein-coding gene encoding a nucleotide triphosphate diphosphatase protein. It hydrolyzes active thioguanine nucleotide metabolites and limits their incorporation into DNA during thiopurine treatment. Reduced-function variants can cause profound myelosuppression at standard doses, making NUDT15 genotype clinically important for thiopurine dosing. This analysis covers 488 NUDT15 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes Decreased total leukocyte count, alopecia, and preeclampsia. Example NUDT15 variants include M1I, T2A, and T2K.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NUDT15 variants

Examples include M1I, T2A, T2K, T2M, T2P, T2R, T2S, T2T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.