Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.A414G
Back to variants list

HCN4

NM_005477.3:p.A414G

Associated Papers

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

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

Genetic Basis of Left Ventricular Noncompaction.

Rojanasopondist P et al.

Circulation. Genomic and Precision Medicine, 2022

35549379 (PubMed )
Supplement: circgenetics_circcvg-2021-003517_supp1.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

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.

Marian AJ et al.

Cardiovascular Research, 2020

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

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

Rezazadeh S et al.

The Canadian Journal of Cardiology, 2017

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."