C8ORF82
Chr 8chromosome 8 open reading frame 82
The protein encoded by this gene is located in the mitochondrion, though its specific function remains unclear. This gene is highly tolerant to loss-of-function variants based on constraint metrics, and no established human disease associations have been reported. Clinical significance of variants in this gene has not been established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C8ORF82 · 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 →No open access results found
External Resources
Links to major genomics databases and tools