CYP2C9 (Cytochrome P450 2C9) variants and mutations

CYP2C9 (also known as Cytochrome P450 2C9) is a human protein-coding gene encoding a cytochrome P450 2C9 protein. An endoplasmic-reticulum cytochrome P450 enzyme that oxidizes drugs and endogenous molecules such as fatty acids and steroids. Its activity varies between individuals, so CYP2C9 variation is important in pharmacogenetics and medication-response research. This analysis covers 1,033 CYP2C9 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes response to anticoagulant, Abnormality of the skeletal system, and Hypoglycemia. Example CYP2C9 variants include M1?, D2N, and D2V.

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, PharmGKB, MaveDB, LitVar.

Notable CYP2C9 variants

Examples include M1?, D2N, D2V, D2D, S3C, S3F, S3P, S3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.