PGR (Progesterone receptor) variants and mutations

PGR (also known as Progesterone receptor) is a human protein-coding gene encoding a progesterone receptor protein. It converts progesterone binding into transcriptional programs governing reproductive-tract function, implantation, pregnancy, and mammary development. Altered signaling is important in hormone-responsive cancers and is targeted clinically by progesterone agonists and antagonists. This analysis covers 1,427 PGR variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes endometriosis, Infertility, and contraception. Example PGR variants include E3A, L4P, and K5T.

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 PGR variants

Examples include E3A, L4P, K5T, A6T, A6V, G8C, G8S, P9L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.