Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.G480R
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HCN4

NM_005477.3:p.G480R

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data.

Verkerk AO et al.

Biomedicines, 2023

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 Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

Piekutowska-Abramczuk D et al.

Genes, 2022

Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.

Paszkowska A et al.

Genes, 2022

Genetic architecture of left ventricular noncompaction in adults.

Ross SB et al.

Human Genome Variation, 2020

Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?

Hanania HL et al.

Circulation. Genomic and Precision Medicine, 2019

A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.

Hategan L et al.

International Journal of Cardiology, 2017

Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.

Rezazadeh S et al.

The Canadian Journal of Cardiology, 2017

Coordinating heart morphogenesis: A novel role for hyperpolarization-activated cyclic nucleotide-gated (HCN) channels during cardiogenesis in Xenopus laevis.

Pitcairn E et al.

Communicative & Integrative Biology, 2017

A Functional Assay for Sick Sinus Syndrome Genetic Variants.

Jou CJ et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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

The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Milanesi R et al.

Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015

HCN4, Sinus Bradycardia and Atrial Fibrillation.

DiFrancesco D

Arrhythmia & Electrophysiology Review, 2015

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

Milano A et al.

Journal of the American College of Cardiology, 2014

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

Verkerk AO et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2014

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

Zhou J et al.

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

Evolutionary genomics reveals the premetazoan origin of opposite gating polarity in animal-type voltage-gated ion channels.

Cai X

Genomics, 2012

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.

Tu E et al.

Brain Pathology (zurich, Switzerland), 2011

The cardiac conduction system.

Park DS et al.

Circulation, 2011

A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

Laish-Farkash A et al.

Journal of Cardiovascular Electrophysiology, 2010

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

The Contribution of HCN4 to normal sinus node function in humans and animal models.

Nof E et al.

Pacing and Clinical Electrophysiology : Pace, 2010

Pacemaker activity of the human sinoatrial node: role of the hyperpolarization-activated current, I(f).

Verkerk AO et al.

International Journal of Cardiology, 2009

Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia.

Nof E et al.

Circulation, 2007

HCN4 and arrhythmias: Insights into base mutations.

Fan W et al.

Mutation Research. Reviews in Mutation Research, 0

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