CYP19A1 (Aromatase) variants and mutations

CYP19A1 (also known as Aromatase) is a human protein-coding gene encoding an aromatase protein. It converts androgens to estrogens and is therefore essential for estrogen biosynthesis in gonads, adipose tissue, placenta, and other sites. Loss-of-function variants cause aromatase deficiency, whereas excessive activity can contribute to estrogen excess; aromatase inhibition is central to treatment of many breast cancers. This analysis covers 973 CYP19A1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes aromatase deficiency, breast cancer, and breast carcinoma. Example CYP19A1 variants include M1?, E4K, and M5I.

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 CYP19A1 variants

Examples include M1?, E4K, M5I, N7K, N7T, N7Y, P8A, P8L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.