CYP2A6 (Cytochrome P450 2A6) variants and mutations

CYP2A6 (also known as Cytochrome P450 2A6) is a human protein-coding gene encoding a cytochrome P450 2A6 protein. It metabolizes nicotine and several other xenobiotics, making its activity a major determinant of nicotine clearance. Functional genetic variation can influence smoking behavior, nicotine exposure, and metabolism of selected drugs and environmental compounds. This analysis covers 1,011 CYP2A6 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes bronchus cancer, lung cancer, and lung carcinoma. Example CYP2A6 variants include L2Q, A3D, and A3S.

Variant analysis overview

Gene: CYP2A6
Protein: Cytochrome P450 2A6
UniProt accession: P11509
Organism: Homo sapiens
Variants analyzed: 1011
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 768 unspecified-consequence records; 1 stop lost; 18 frameshift variants; 93 synonymous variants; 118 missense variants; 3 in-frame deletions; 6 stop-gained variants; 2 splice-region variants; 2 substitution
Prediction scores: 940 variants have prediction scores (93% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: bronchus cancer, lung cancer, lung carcinoma, coffee consumption, respiratory system cancer, asphyxia, Hypoxemia, pneumonia, invasive mechanical ventilation, smoking behavior, chronic lung disease, chronic obstructive pulmonary disease.

Protein structure and variant hotspots

Protein features: 3 binding sites.

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 CYP2A6 variants

Examples include L2Q, A3D, A3S, A3V, G5R, G5V, M6I, M6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

CYP2A6 analysis run — CYP2A6 (1,011 variants) — completed 2026-08-20