Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.R211W
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KCNJ5

NM_000890.5:p.R211W

Associated Papers

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S3_-_Case_series_OK.pdf

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

Familial Sinus Node Disease Caused by a Gain of GIRK (G-Protein Activated Inwardly Rectifying K+ Channel) Channel Function.

Kuß J et al.

Circulation. Genomic and Precision Medicine, 2019

Multiple clinical profiles of families with the short QT syndrome.

Akdis D et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2018

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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."