PBRM1 (Protein polybromo-1) variants and mutations

PBRM1 (also known as Protein polybromo-1) is a human protein-coding gene encoding a protein polybromo-1 protein. It helps PBAF chromatin-remodeling complexes recognize modified nucleosomes and regulate transcription in response to cellular signals. Somatic loss-of-function variants are especially common in clear-cell renal cell carcinoma and support a major tumor-suppressor role. This analysis covers 1,716 PBRM1 variants and mutations. Of these, 43% have computational variant effect predictions. Disease context includes clear cell renal carcinoma, renal cell carcinoma, and cholangiocarcinoma. Example PBRM1 variants include K4Q, R6K, and R7I.

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 PBRM1 variants

Examples include K4Q, R6K, R7I, A8T, T9A, S10T, P11L, S12F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.