Varaico: Literature-Extracted Genetic Variants

Gene:WNK4
Variant:p.A494T
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WNK4

NM_032387.5:p.A494T

Associated Papers

Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.

Wang L et al.

Biochemical and Biophysical Research Communications, 2023

WNK signalling pathways in blood pressure regulation.

Murthy M et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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

The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.

Ohta A et al.

The Biochemical Journal, 2013

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM et al.

Nature, 2012

[KLHL3 and CULLIN-3: new genes involved in familial hypertension].

Louis-Dit-Picard H et al.

Medecine Sciences : M/s, 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."