Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.G633R
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NR3C2

NM_000901.5:p.G633R

Associated Papers

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 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

Crystal structure of the mineralocorticoid receptor DNA binding domain in complex with DNA.

Hudson WH et al.

Plos One, 2014

Aldosterone resistance: structural and functional considerations and new perspectives.

Zennaro MC et al.

Molecular and Cellular Endocrinology, 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

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

New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding.

Sartorato P et al.

Molecular Endocrinology (baltimore, Md.), 2004

Mineralocorticoid resistance.

Zennaro MC et al.

Trends in Endocrinology and Metabolism: Tem, 2004

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

Sartorato P et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Development and Diseases of the Collecting Duct System.

Chen L et al.

Results and Problems in Cell Differentiation, 0

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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."