Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.C122W
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KCNJ2

NM_000891.3:p.C122W

Associated Papers

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.

Zuniga D et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.

Cruz FM et al.

Circulation Research, 2024

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.

Cruz FM et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."