Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.P48R
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CLCN2

NM_004366.6:p.P48R

Associated Papers

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

Maeda LK et al.

Archives of Endocrinology and Metabolism, 2025

Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.

Kim S et al.

International Journal of Molecular Sciences, 2024

Adrenal Anion Channels: New Roles in Zona Glomerulosa Physiology and in the Pathophysiology of Primary Aldosteronism.

Stölting G et al.

Handbook of Experimental Pharmacology, 2024

Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.

Perez-Rivas LG et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Fernandes-Rosa FL et al.

Nature Genetics, 2018

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."