Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G219C
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CLCNKB

NM_000085.5:p.G219C

Associated Papers

ClC-K Kidney Chloride Channels: From Structure to Pathology.

Andrini O et al.

Handbook of Experimental Pharmacology, 2024

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.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

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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."