Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.Y481H
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HCN4

NM_005477.3:p.Y481H

Associated Papers

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

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Brünger T et al.

Brain : a Journal of Neurology, 2023

36036558 (PubMed )
Supplement: awac305_supplementary_data.zip › brain-2022-00400-File008.pdf

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 large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction, and thoracic aortic aneurysm.

Ponińska J et al.

Polish Archives of Internal Medicine, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?

Hanania HL et al.

Circulation. Genomic and Precision Medicine, 2019

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case.

Servatius H et al.

Circulation. Genomic and Precision Medicine, 2018

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

Rezazadeh S et al.

The Canadian Journal of Cardiology, 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

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

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

Milano A et al.

Journal of the American College of Cardiology, 2014

Ion channel dysfunction associated with arrhythmia, ventricular noncompaction, and mitral valve prolapse: a new overlapping phenotype.

Towbin JA

Journal of the American College of Cardiology, 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."