BCCIP
Chr 10BRCA2 and CDKN1A interacting protein
Also known as: TOK-1, TOK1
BCCIP encodes a nuclear protein that functions as a cofactor for BRCA2 in DNA homologous recombination repair and regulates microtubule organization and spindle pole stability during cell division. Mutations cause an autosomal recessive neurodevelopmental disorder with microcephaly, intellectual disability, and growth retardation. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BCCIP · 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