Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R371H
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KCNJ11

NM_000525.4:p.R371H

Associated Papers

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

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

K(ATP) channel pharmacogenomics: from bench to bedside.

Sattiraju S et al.

Clinical Pharmacology and Therapeutics, 2008

Elimination of allosteric modulation of myocardial KATP channels by ATP and protons in two Kir6.2 polymorphisms found in sudden cardiac death.

Cui N et al.

Physiological Genomics, 2006

KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction.

Jeron A et al.

Journal of Molecular and Cellular Cardiology, 2004

Susceptibility genes & modifiers for cardiac arrhythmias.

Schulze-Bahr E

Progress in Biophysics and Molecular Biology, 0

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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."