BCR (P11274) variants and mutations

BCR (also known as P11274) is a human protein-coding gene encoding a breakpoint cluster region protein. It has serine/threonine kinase and GTPase-regulatory functions involved in cytoskeletal and signaling control. Chromosomal fusion with ABL1 creates the constitutively active BCR::ABL1 kinase that drives chronic myeloid leukemia and subsets of acute leukemia. This analysis covers 2,064 BCR variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes chronic myelogenous leukemia, BCR-ABL1 positive, acute lymphoblastic leukemia, and cancer. Example BCR variants include V2A, V2M, and V2L.

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

Notable BCR variants

Examples include V2A, V2M, V2L, V2V, D3A, D3E, D3N, D3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.