Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.F20I
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SLC12A3

NM_001126108.2:p.F20I

Associated Papers

Navigating the multifaceted intricacies of the Na+-Cl- cotransporter, a highly regulated key effector in the control of hydromineral homeostasis.

Rioux AV et al.

Physiological Reviews, 2024

Characterization of a novel phosphorylation site in the sodium-chloride cotransporter, NCC.

Rosenbaek LL et al.

The Journal of Physiology, 2012

The activity of the thiazide-sensitive Na(+)-Cl(-) cotransporter is regulated by protein phosphatase PP4.

Glover M et al.

Canadian Journal of Physiology and Pharmacology, 2010

Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.

Miao Z et al.

European Journal of Endocrinology, 2009

Renal and brain isoforms of WNK3 have opposite effects on NCCT expression.

Glover M et al.

Journal of the American Society of Nephrology : Jasn, 2009

WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1.

Moriguchi T et al.

The Journal of Biological Chemistry, 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."