Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.S433G
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KLHL3

NM_017415.3:p.S433G

Associated Papers

Familial Hyperkalemic Hypertension.

Cornelius RJ et al.

Comprehensive Physiology, 2024

Kelch-like protein 3 in human disease and therapy.

Lin Y et al.

Molecular Biology Reports, 2022

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor and NaCl transport mechanisms in the renal distal nephron.

Shibata S

The Journal of Endocrinology, 2017

Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3.

Ishizawa K et al.

Biochemical and Biophysical Research Communications, 2016

Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3.

Yoshizaki Y et al.

Biochemical and Biophysical Research Communications, 2015

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

Louis-Dit-Picard H et al.

Nature Genetics, 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."