NUDT6

Chr 4

nudix hydrolase 6

Also known as: ASFGF2, FGF-AS, FGF2AS, GFG-1, GFG1

NCBI Gene: 11162ENSG00000170917UniProt: P53370

NUDT6 encodes a nucleotidase that hydrolyzes nucleoside diphosphate derivatives including NADH and FAD, and functions as an antisense regulator of FGF2 expression with antiproliferative effects in the pituitary. This gene is extremely tolerant to loss-of-function variants based on population data (pLI = 0.00003), suggesting that biallelic mutations would be required to cause disease. No well-established human disease phenotypes have been definitively linked to NUDT6 mutations.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
25
P/LP submissions
0%
P/LP missense
0.95
LOEUF
DN
Mechanism· predicted
Clinical Summary— NUDT6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 unique Pathogenic / Likely Pathogenic· 45 VUS of 86 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.95LOEUF
pLI 0.000
Z-score 1.73
OE 0.56 (0.34–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.02Z-score
OE missense 1.01 (0.89–1.14)
175 obs / 174.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.56 (0.34–0.95)
0≤0.351.4
Missense OE1.01 (0.89–1.14)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 10 / 17.9Missense obs/exp: 175 / 174.1Syn Z: -0.77
DN
0.6842th %ile
GOF
0.4776th %ile
LOF
0.3261th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic24
Likely Pathogenic1
VUS45
Likely Benign2
Benign4
24
Pathogenic
1
Likely Pathogenic
45
VUS
2
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
24
0
24
Likely Pathogenic
0
0
1
0
1
VUS
0
38
7
0
45
Likely Benign
0
1
0
1
2
Benign
0
2
2
0
4
Total04134176

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NUDT6 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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