SNAPC3
Chr 9small nuclear RNA activating complex polypeptide 3
The SNAPC3 protein is part of the SNAPc complex that binds to promoter sequences and is required for transcription of small nuclear RNA genes by both RNA polymerase II and III. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly, typically presenting in early childhood. This gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNAPC3 · 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