CYP2B6 (Cytochrome P450 2B6) variants and mutations

CYP2B6 (also known as Cytochrome P450 2B6) is a human protein-coding gene encoding a cytochrome P450 2B6 protein. It contributes to hepatic clearance of drugs including efavirenz, bupropion, methadone, and several anesthetic or anticancer agents. Functional variants can markedly change enzyme activity and thereby alter drug exposure, efficacy, and toxicity. This analysis covers 930 CYP2B6 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes mastocytosis, cutaneous mastocytosis, and osteoarthritis. Example CYP2B6 variants include E2D, E2K, and E2*.

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 CYP2B6 variants

Examples include E2D, E2K, E2*, E2E, L3I, S4C, S4G, S4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.