NUDT17

Chr 1

nudix hydrolase 17

NCBI Gene: 200035ENSG00000186364UniProt: P0C025

Predicted to enable 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity and NADH pyrophosphatase activity. Predicted to be involved in NAD+ catabolic process; NADP+ catabolic process; and RNA decapping. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 1.01
OE 0.74 (0.48–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.73Z-score
OE missense 1.15 (1.03–1.30)
205 obs / 177.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.48–1.18)
0≤0.351.4
Missense OE?1.15 (1.03–1.30)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 13 / 17.6Missense obs/exp: 205 / 177.6Syn Z: -1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NUDT17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients