PAX5 (Paired box protein Pax-5) variants and mutations

PAX5 (also known as Paired box protein Pax-5) is a human protein-coding gene encoding a paired box protein Pax-5 protein. It establishes and maintains B-cell identity by activating B-lineage genes and repressing alternative developmental programs. Somatic loss, mutation, or rearrangement is common in B-cell acute lymphoblastic leukemia, while germline variants can confer leukemia susceptibility and immunodeficiency. This analysis covers 1,087 PAX5 variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes leukemia, acute lymphoblastic, susceptibility to, 3, acute lymphoblastic leukemia, and neurodegenerative disease. Example PAX5 variants include D2E, D2H, and D2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 PAX5 variants

Examples include D2E, D2H, D2N, D2Y, L3V, E4K, K5R, K5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.