Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.R524Q
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HCN4

NM_005477.3:p.R524Q

Associated Papers

A New Mechanism of Supraventricular Tachycardia: Gene Mutation.

Gao J et al.

Current Cardiology Reviews, 2025

A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.

Cámara-Checa A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 2020

Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death.

Dong J et al.

Pacing and Clinical Electrophysiology : Pace, 2019

A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.

Baruscotti M et al.

European Heart Journal, 2017

Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.

Biel S et al.

Pflugers Archiv : European Journal of Physiology, 2016

Current understanding of the pathophysiological mechanisms responsible for inappropriate sinus tachycardia: role of the If "funny" current.

Baruscotti M et al.

Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2016

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."