NUDT15
Chr 13ADnudix hydrolase 15
Also known as: MTH2, NUDT15D
The enzyme catalyzes hydrolysis of nucleoside triphosphates including thiopurine drug derivatives like 6-thio-dGTP and 6-thio-GTP, serving as a negative regulator of thiopurine activation and toxicity. Mutations cause poor metabolism of thiopurines with autosomal dominant inheritance, leading to thiopurine-induced early leukopenia in patients receiving these medications. This gene shows low constraint against loss-of-function variants, indicating tolerance to such mutations in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
92 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 65 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 12 | 6 | 0 | 19 |
Likely Benign | 0 | 0 | 1 | 3 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 12 | 75 | 3 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUDT15 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
NUDT15/TPMT Multi-gene Guided 6-MP Dosing in Childhood ALL Maintenance Therapy
NOT YET RECRUITINGThe Prevalence and Impacts of Nudix Hydrolase 15 (NUDT15) Gene Variants in Taiwanese Inflammatory Bowel Disease
RECRUITINGExternal Resources
Links to major genomics databases and tools