Glucocorticoid resistance: genes and variants
Glucocorticoid resistance is linked to 1 analyzed protein (NR3C1). 6 DNA variants are known to cause it; 58 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Glucocorticoid resistance
NR3C1: Glucocorticoid receptor
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.
6 disease-causing and 58 uncertain variants in NR3C1 are linked to Glucocorticoid resistance.
Where Glucocorticoid resistance variants cluster
- NR3C1 Interaction with CLOCK (positions 485–777): 6 of 6 disease-causing changes, 2.6× more than its size predicts.
Known disease-causing variants in Glucocorticoid resistance
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NR3C1 V729A | 729 | NR LBD | Disease-causing (★) |
| NR3C1 I559N | 559 | NR LBD | Disease-causing |
| NR3C1 F737L | 737 | NR LBD | Disease-causing |
| NR3C1 L773P | 773 | Interaction with CLOCK | Disease-causing |
| NR3C1 I747M | 747 | NR LBD | Disease-causing |
| NR3C1 D641V | 641 | NR LBD | Disease-causing |
Diseases related to Glucocorticoid resistance
- Nephrotic syndrome, also linked to NR3C1
- Prostate cancer, also linked to NR3C1
Frequently asked questions
Which genes are linked to Glucocorticoid resistance?
In CATVariant, Glucocorticoid resistance is linked to 1 analyzed protein: NR3C1 (Glucocorticoid receptor).
How many genetic variants are linked to Glucocorticoid resistance?
68 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 58 are of uncertain significance or have conflicting reports.
Which uncertain variants in Glucocorticoid resistance look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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