RB1 (P06400) variants and mutations

RB1 (also known as P06400) is a human protein-coding gene encoding a retinoblastoma-associated protein. It restrains E2F-dependent transcription and prevents inappropriate G1-to-S cell-cycle progression until proliferative signals are appropriate. Loss of function is a fundamental cancer-driving event, while germline pathogenic variants cause hereditary retinoblastoma and increase risk of additional tumors. This analysis covers 3,857 RB1 variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes retinoblastoma, hereditary retinoblastoma, and urinary bladder cancer. Example RB1 variants include M1L, P2A, and P2L.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable RB1 variants

Examples include M1L, P2A, P2L, P2S, P2T, P2Q, P2P, P3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.