Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.A485E
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HCN4

NM_005477.3:p.A485E

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

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.

Marian AJ et al.

Cardiovascular Research, 2020

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case.

Servatius H et al.

Circulation. Genomic and Precision Medicine, 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."