R3HCC1
Chr 8R3H domain and coiled-coil containing 1
Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— R3HCC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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)
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
Mild missense constraint
Observed / Expected Ratios
LoF OE0.71 (0.40–1.33)
0≤0.351.4
Missense OE0.82 (0.70–0.95)
0≤0.61.4
Synonymous OE1.05
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
Protein Context — Lollipop Plot
R3HCC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Open Research Assistant →Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of disulfidptosis-related genes in immunity and immunotherapy in diabetic foot ulcer.
Li J et al.·Ann Med Surg (Lond)
2025
The C11orf24 Gene as a Useful Biomarker for Predicting Severe Neutropenia in Modified FOLFIRINOX for Pancreatic Cancer
Kanesada G et al.·Cancer Sci
2025
Role of TFRC as a Novel Prognostic Biomarker and in Immunotherapy for Pancreatic Carcinoma
Yang C et al.·Front Mol Biosci
2022
Bridging Integrator 3 (BIN3) Downregulation Predicts a Poor Prognosis in Patients with Esophagus Carcinoma: A Study based on TCGA Data
Li D et al.·Comb Chem High Throughput Screen
2022Cohort
The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis
Shahrisa A et al.·Mol Cytogenet
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration.
Shi H et al.·BMC Genomics
2024Functional
Association between a single nucleotide polymorphism in the R3HCC1 gene and irinotecan toxicity.
Kanesada K et al.·Cancer Med
2023
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools