Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R725W
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CLCN2

NM_004366.6:p.R725W

Associated Papers

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.

Maeda LK et al.

Archives of Endocrinology and Metabolism, 2025

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Ma T et al.

Nature Communications, 2023

Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?

Jeworutzki E et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2021

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

Klassen T et al.

Cell, 2011

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

Paul J et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2007

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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."