BICRA
Chr 19ADBRD4 interacting chromatin remodeling complex associated protein
Also known as: CSS12, GLTSCR1, SMARCK1
The BICRA protein is a component of the SWI/SNF chromatin remodeling complex that alters DNA-histone contacts within nucleosomes in an ATP-dependent manner to regulate gene transcription. Mutations cause Coffin-Siris syndrome 12, a neurodevelopmental disorder with intellectual disability and distinctive facial features, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.98), indicating that most pathogenic variants are likely de novo mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BICRA · 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 →External Resources
Links to major genomics databases and tools