AR (Androgen receptor) variants and mutations

AR (also known as Androgen receptor) is a human protein-coding gene encoding an androgen receptor protein. Androgen binding redirects its transcriptional program to control male sexual differentiation, reproductive physiology, muscle and bone biology, and other androgen-responsive processes. Loss-of-function variants cause androgen insensitivity, CAG expansion causes spinal and bulbar muscular atrophy, and persistent signaling drives prostate cancer. This analysis covers 4,045 AR variants and mutations. Of these, 22% have computational variant effect predictions. Disease context includes cancer, neurodegenerative disease, and Precordial pain. Example AR variants include M1L, E2D, and E2G.

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, ClinGen, MaveDB, LitVar.

Notable AR variants

Examples include M1L, E2D, E2G, E2K, E2Q, V3E, V3G, V3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.