Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.R947*
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NR3C2

NM_000901.5:p.R947*

Associated Papers

Associations of Genetic Variations in the NR3C2 With Salt Sensitivity, Longitudinal Blood Pressure Changes, and Incidence of Hypertension in Chinese Adults.

Wang L et al.

Journal of Clinical Hypertension (greenwich, Conn.), 2025

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.

Nakata Y et al.

Journal of Clinical Medicine, 2025

40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_2__MR_group_.xlsx › MR_group_n_88_

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Genetic disorders of nuclear receptors.

Achermann JC et al.

The Journal of Clinical Investigation, 2017

Clinical features and molecular basis of pseudohypoaldosteronism type 1.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

Hatta Y et al.

Endocrine Journal, 2013

Different polymorphisms of the mineralocorticoid receptor gene are associated with either glucocorticoid or mineralocorticoid levels in hypertension.

Sun B et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population.

Martinez F et al.

American Journal of Hypertension, 2009

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2007

Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

Fernandes-Rosa FL et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.

Kamide K et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2005

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."