C3ORF38
Chr 3chromosome 3 open reading frame 38
The protein encoded by this gene may be involved in regulating apoptosis and is located in the nucleus. Mutations in C3ORF38 cause neurodevelopmental disorders with intellectual disability, seizures, and brain malformations, typically presenting in early childhood. The condition follows an autosomal recessive inheritance pattern.
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
C3ORF38 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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