Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.C122Y
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KCNJ2

NM_000891.3:p.C122Y

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes.

Munawar S et al.

Scientific Reports, 2025

Kir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.

Cruz FM et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.

Moreno-Manuel AI et al.

Cardiovascular Research, 2023

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.

Jiménez-Jáimez J et al.

Revista Espanola De Cardiologia (english Ed.), 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."