Varaico: Literature-Extracted Genetic Variants

Gene:WNK4
Variant:p.D564H
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WNK4

NM_032387.5:p.D564H

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

WNK4 kinase: from structure to physiology.

Murillo-de-Ozores AR et al.

American Journal of Physiology. Renal Physiology, 2021

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.

Louis-Dit-Picard H et al.

The Journal of Clinical Investigation, 2020

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

Sakoh T et al.

Molecular Genetics & Genomic Medicine, 2019

Kelch-like 3/Cullin 3 ubiquitin ligase complex and WNK signaling in salt-sensitive hypertension and electrolyte disorder.

Sohara E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M et al.

Clinical Science (london, England : 1979), 2014

Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II.

Zhang C et al.

Nephron. Physiology, 2011

A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene.

Gong H et al.

Endocrine, 2008

WNK kinases, renal ion transport and hypertension.

San-Cristobal P et al.

American Journal of Nephrology, 2008

A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.

Golbang AP et al.

Hypertension (dallas, Tex. : 1979), 2005

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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."