CYP2C8 (Cytochrome P450 2C8) variants and mutations

CYP2C8 (also known as Cytochrome P450 2C8) is a human protein-coding gene encoding a cytochrome P450 2C8 protein. It oxidizes drugs and endogenous lipids, with important substrates including paclitaxel and several antidiabetic agents. Genetic variation and strong inhibitors can alter clearance and increase treatment-related toxicity. This analysis covers 917 CYP2C8 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, stroke disorder, and alcohol drinking. Example CYP2C8 variants include M1?, E2K, and P3R.

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 CYP2C8 variants

Examples include M1?, E2K, P3R, P3T, F4S, F4V, V5E, V8L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.