R3HCC1

Chr 8

R3H domain and coiled-coil containing 1

NCBI Gene: 203069ENSG00000104679UniProt: Q9Y3T6

Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.000
Z-score 0.83
OE 0.71 (0.40–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.82 (0.70–0.95)
118 obs / 144.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.40–1.33)
0≤0.351.4
Missense OE?0.82 (0.70–0.95)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 7 / 9.8Missense obs/exp: 118 / 144.2Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

R3HCC1 · 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