BCL2L1 (Bcl-2-like protein 1) variants and mutations

BCL2L1 (also known as Bcl-2-like protein 1) is a human protein-coding gene encoding a bcl-2-like protein 1 protein. Its major anti-apoptotic isoform, BCL-XL, restrains mitochondrial cell death by binding and neutralizing pro-apoptotic BCL-2-family proteins. Many cancers exploit elevated BCL-XL activity to survive cellular stress and therapy. This analysis covers 675 BCL2L1 variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes neurodegenerative disease, severe acute respiratory syndrome, and neoplasm. Example BCL2L1 variants include S2A, S2C, and S2F.

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 BCL2L1 variants

Examples include S2A, S2C, S2F, Q3R, Q3H, Q3L, Q3K, S4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.