CYP2D6 (Cytochrome P450 2D6) variants and mutations

CYP2D6 (also known as Cytochrome P450 2D6) is a human protein-coding gene encoding a cytochrome P450 2D6 protein. It oxidizes many commonly prescribed drugs, and inherited differences in activity can shift patients from poor to ultrarapid metabolism. This variability can substantially alter drug exposure, efficacy, and toxicity, making CYP2D6 one of the most clinically important pharmacogenes. This analysis covers 1,661 CYP2D6 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes response to tramadol, debrisoquine, poor metabolism of, and Abnormality of the skeletal system. Example CYP2D6 variants include G2R, G2V, and G2W.

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 CYP2D6 variants

Examples include G2R, G2V, G2W, L3Q, L3R, E4D, E4G, A5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.