NUDT15
nudix hydrolase 15
Pharmacogene
Summary
This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769369441 | 13:48,037,748 | T/C | coding sequence variant | — |
| rs941255227 | 13:48,037,749 | G/C | coding sequence variant | — |
| rs0 | 13:48,037,782 | AGGAGTC/AGGAGTCGGAGTC | coding sequence variant | — |
| rs777311140 | 13:48,037,825 | C/CGCGG | coding sequence variant | — |
| rs1202487323 | 13:48,037,834 | C/T | coding sequence variant | — |
| rs766023281 | 13:48,037,847 | G/C | coding sequence variant | — |
| rs149436418 | 13:48,037,902 | C/G | coding sequence variant | — |
| rs761191455 | 13:48,041,103 | T/TG | coding sequence variant | — |
| rs1368252918 | 13:48,041,113 | G/T | coding sequence variant | — |
| rs768324690 | 13:48,045,690 | C/G | coding sequence variant | — |
| rs139551410 | 13:48,045,771 | T/A | coding sequence variant | — |
| rs774058908 | 13:48,611,891 | C/T | — | likely benign |
| rs61746486 | 13:48,611,918 | A/C | — | likely benign |
| rs2541745312 | 13:48,611,956 | A/C | — | uncertain significance |
| rs775476759 | 13:48,611,959 | C/A | — | uncertain significance |
| rs186364861 | 13:48,611,968 | G/A | missense | drug response |
| rs116855232 | 13:48,611,992 | C/T | missense | drug response |
| rs1950544837 | 13:48,611,994 | G/C | — | uncertain significance |
| rs138959770 | 13:48,612,005 | C/A | — | likely benign |
| rs2541750091 | 13:48,615,084 | G/A | — | uncertain significance |
| rs147390019 | 13:48,619,856 | G/A | missense variant | drug response |
| rs61973267 | 13:48,619,942 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.