NR3C1 (Glucocorticoid receptor) variants and mutations

NR3C1 (also known as Glucocorticoid receptor) is a human protein-coding gene encoding a glucocorticoid receptor protein. It converts glucocorticoid binding into transcriptional programs that regulate metabolism, stress responses, inflammation, and immune activity. Loss-of-function variants can cause glucocorticoid resistance, while excessive or prolonged signaling underlies many adverse effects of corticosteroid therapy. This analysis covers 1,075 NR3C1 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes glucocorticoid resistance, chronic obstructive pulmonary disease, and multiple sclerosis. Example NR3C1 variants include M1?, S3C, and S3F.

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 NR3C1 variants

Examples include M1?, S3C, S3F, E5*, S6*, T8A, T8S, P9H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.