Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.R491*
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NR3C1

NM_000176.3:p.R491*

Associated Papers

Glucocorticoid Resistance Syndrome: A Systematic Review of the Genotypes, Phenotypes, and Their Relationships.

Wang S et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s007.xlsx › SNV

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Yavas Abalı Z et al.

Frontiers in Endocrinology, 2024

Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia.

Verouti S et al.

Pflugers Archiv : European Journal of Physiology, 2022

A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.

Paragliola RM et al.

Molecular Diagnosis & Therapy, 2020

Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients.

Vitellius G et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Bilateral adrenal hyperplasia and NR3C1 mutations causing glucocorticoid resistance: Is there an association?

Nicolaides NC et al.

European Journal of Endocrinology, 2018

Pathophysiology of Glucocorticoid Signaling.

Vitellius G et al.

Annales D'endocrinologie, 2018

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

Vitellius G et al.

European Journal of Endocrinology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."