Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.G1097W
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HCN4

NM_005477.3:p.G1097W

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

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Cheng L et al.

International Journal of Genomics, 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

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

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

Pan Q et al.

Plos One, 2016

HCN4, Sinus Bradycardia and Atrial Fibrillation.

DiFrancesco D

Arrhythmia & Electrophysiology Review, 2015

Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.

Verkerk AO et al.

International Journal of Molecular Sciences, 2015

A novel HCN4 mutation, G1097W, is associated with atrioventricular block.

Zhou J et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

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."