CYP2E1 (Cytochrome P450 2E1) variants and mutations

CYP2E1 (also known as Cytochrome P450 2E1) is a human protein-coding gene encoding a cytochrome P450 2E1 protein. It oxidizes ethanol, acetone, anesthetics, and many small xenobiotics and can generate substantial reactive oxygen species during catalysis. Induction by chronic alcohol exposure contributes to toxic metabolite formation and oxidative liver injury. This analysis covers 910 CYP2E1 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Primary amenorrhea, primary ovarian failure, and ovarian dysfunction. Example CYP2E1 variants include M1?, S2C, and S2Y.

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 CYP2E1 variants

Examples include M1?, S2C, S2Y, S2F, A3S, A3P, A3D, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.