ESR1 (Estrogen receptor) variants and mutations

ESR1 (also known as Estrogen receptor) is a human protein-coding gene encoding an estrogen receptor protein. Estrogen binding redirects its transcriptional activity toward programs controlling reproductive, skeletal, metabolic, and mammary physiology. Persistent ESR1 signaling drives most hormone-receptor-positive breast cancers, while acquired activating variants are an important mechanism of endocrine-therapy resistance. This analysis covers 2,664 ESR1 variants and mutations. Of these, 33% have computational variant effect predictions. Disease context includes breast cancer, breast carcinoma, and osteoporosis. Example ESR1 variants include M1?, T2A, and T2N.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ESR1 variants

Examples include M1?, T2A, T2N, T2S, M3I, M3T, M3V, M3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.