Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.L369F
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WNK1

NM_018979.4:p.L369F

Associated Papers

WNK4 kinase: role of chloride sensing in the distal convoluted tubule.

Chen JC et al.

Current Opinion in Nephrology and Hypertension, 2021

Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders.

Kim Y et al.

Cellular and Molecular Gastroenterology and Hepatology, 2020

Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Murillo-de-Ozores AR et al.

Frontiers in Physiology, 2020

Dietary K+ and Cl- independently regulate basolateral conductance in principal and intercalated cells of the collecting duct.

Tomilin VN et al.

Pflugers Archiv : European Journal of Physiology, 2018

With no lysine L-WNK1 isoforms are negative regulators of the K+-Cl- cotransporters.

Mercado A et al.

American Journal of Physiology. Cell Physiology, 2016

Unique chloride-sensing properties of WNK4 permit the distal nephron to modulate potassium homeostasis.

Terker AS et al.

Kidney International, 2016

Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride.

Terker AS et al.

Cell Metabolism, 2015

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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."