BCL2 (Apoptosis regulator Bcl-2) variants and mutations

BCL2 (also known as Apoptosis regulator Bcl-2) is a human protein-coding gene encoding an apoptosis regulator Bcl-2 protein. It prevents mitochondrial outer-membrane permeabilization by binding pro-apoptotic BCL-2-family proteins and thereby prolongs cell survival. The t(14;18) translocation drives persistent expression in follicular lymphoma, and BCL2 dependence is therapeutically targetable in several blood cancers. This analysis covers 937 BCL2 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes B-cell chronic lymphocytic leukemia, neoplasm, and diffuse large B-cell lymphoma. Example BCL2 variants include M1?, A2P, and A2S.

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, MaveDB, LitVar.

Notable BCL2 variants

Examples include M1?, A2P, A2S, A2T, A2V, H3D, H3L, H3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.