BAK1 (Q16611) variants and mutations

BAK1 (also known as Q16611) is a human protein-coding gene encoding a bcl-2 homologous antagonist/killer protein. It promotes mitochondrial outer-membrane permeabilization during intrinsic apoptosis by oligomerizing after activation by pro-apoptotic signals. Loss or suppression can increase resistance to cell death, whereas excessive activation can contribute to tissue injury. This analysis covers 414 BAK1 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes B-cell chronic lymphocytic leukemia, B-cell acute lymphoblastic leukemia, and type 2 diabetes mellitus. Example BAK1 variants include A2V, S3L, and G6R.

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 BAK1 variants

Examples include A2V, S3L, G6R, G8S, E13D, E13K, E13Q, C14F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.