CYP1A2 (Cytochrome P450 1A2) variants and mutations

CYP1A2 (also known as Cytochrome P450 1A2) is a human protein-coding gene encoding a cytochrome P450 1A2 protein. It metabolizes caffeine and many clinically used or environmental compounds in the liver. Genetic variation, smoking, diet, and interacting drugs can substantially change its activity and therefore alter exposure to substrates such as clozapine and theophylline. This analysis covers 1,023 CYP1A2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes hypertensive disorder, osteoarthritis, and essential hypertension. Example CYP1A2 variants include A2T, A2E, and A2A.

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 CYP1A2 variants

Examples include A2T, A2E, A2A, L3F, L3S, S4F, S4S, Q5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.