Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.P883R
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HCN4

NM_005477.3:p.P883R

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

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Shared_Rare_Variants_Filter

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.

Marian AJ et al.

Cardiovascular Research, 2020

Cardiac and neuronal HCN channelopathies.

Rivolta I et al.

Pflugers Archiv : European Journal of Physiology, 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

The C-terminal HCN4 variant P883R alters channel properties and acts as genetic modifier of atrial fibrillation and structural heart disease.

Weigl I et al.

Biochemical and Biophysical Research Communications, 2019

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

DiFrancesco JC et al.

Epilepsy Research, 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

Reply: A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.

Arbustini E et al.

Journal of the American College of Cardiology, 2017

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

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, 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

The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.

Schweizer PA 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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