BCOR (BCL-6 corepressor) variants and mutations

BCOR (also known as BCL-6 corepressor) is a human protein-coding gene encoding a BCL-6 corepressor protein. It participates in transcriptional repression through noncanonical Polycomb complexes and helps regulate developmental and hematopoietic gene expression. Germline loss-of-function variants cause oculofaciocardiodental syndrome, while somatic BCOR alterations occur in myeloid and other cancers. This analysis covers 3,236 BCOR variants and mutations. Of these, 47% have computational variant effect predictions. Disease context includes microphthalmia, syndromic 2, microphthalmia, Lenz type, and hereditary disease. Example BCOR variants include S3*, S3L, and S3T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable BCOR variants

Examples include S3*, S3L, S3T, A4V, A4S, T5N, P6T, P6Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.