HINT3

Chr 6

histidine triad nucleotide binding protein 3

Also known as: HINT4

NCBI Gene: 135114ENSG00000111911UniProt: Q9NQE9

Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.78
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?
1.78LOEUF
pLI 0.000
Z-score -0.19
OE 1.08 (0.63–1.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.59Z-score
OE missense 0.83 (0.69–1.00)
82 obs / 98.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.08 (0.63–1.78)
0≤0.351.4
Missense OE?0.83 (0.69–1.00)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 8 / 7.4Missense obs/exp: 82 / 98.6Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HINT3 · 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