Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G465R
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CLCNKB

NM_000085.5:p.G465R

Associated Papers

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Palazzo V et al.

International Journal of Molecular Sciences, 2022

35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.

Bignon Y et al.

Human Mutation, 2020

In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.

Louet M et al.

Scientific Reports, 2017

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E et al.

Journal of the American Society of Nephrology : Jasn, 2017

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.

Andrini O et al.

Pflugers Archiv : European Journal of Physiology, 2014

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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."