Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.S562P
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NR3C2

NM_000901.5:p.S562P

Associated Papers

Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.

Gao Z et al.

Archives of Endocrinology and Metabolism, 2023

Function and Regulation of the Epithelial Na+ Channel ENaC.

Rotin D et al.

Comprehensive Physiology, 2021

Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.

Willam A et al.

Frontiers in Pharmacology, 2017

A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.

Dirlewanger M et al.

American Journal of Physiology. Endocrinology and Metabolism, 2011

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG

Hormone Research, 2009

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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."