Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R218L
Back to variants list

KCNJ2

NM_000891.3:p.R218L

Associated Papers

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

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

Asymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen-Tawil syndrome-a case report.

Nguyen D et al.

European Heart Journal. Case Reports, 2018

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome.

Van Ert HA et al.

Heartrhythm Case Reports, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."