R3HCC1L

Chr 10

R3H domain and coiled-coil containing 1 like

Also known as: C10orf28, GIDRP86, GIDRP88, PSORT

NCBI Gene: 27291ENSG00000166024UniProt: Q7Z5L2

Located in exon-exon junction complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.57
OE 0.67 (0.46–1.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.74Z-score
OE missense 1.10 (1.02–1.19)
453 obs / 411.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.46–1.00)
0≤0.351.4
Missense OE?1.10 (1.02–1.19)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 18 / 26.8Missense obs/exp: 453 / 411.0Syn Z: -1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

R3HCC1L · 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