Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.G811E
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HCN4

NM_005477.3:p.G811E

Associated Papers

Channel HCN4 mutation R666Q associated with sporadic arrhythmia decreases channel electrophysiological function and increases protein degradation.

Wang H et al.

The Journal of Biological Chemistry, 2022

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.

Yokoyama R et al.

Heart and Vessels, 2018

HCN4 and arrhythmias: Insights into base mutations.

Fan W et al.

Mutation Research. Reviews in Mutation Research, 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."