Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S631A
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KCNH2

NM_000238.4:p.S631A

Associated Papers

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.

Chatelain FC 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, 2026

41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants

Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.

Hunter DV et al.

Advances in Experimental Medicine and Biology, 2026

Molecular determinants of HERG potassium channel blockade by domiphen bromide and benzethonium chloride.

Tang F et al.

Pflugers Archiv : European Journal of Physiology, 2025

A privileged ER compartment for posttranslational heteromeric assembly of an ion channel.

Kannan S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

A privileged ER compartment for post-translational heteromeric assembly of an ion channel.

Kannan S et al.

Biorxiv : the Preprint Server for Biology, 2025

Molecular insights into the rescue mechanism of an HERG activator against severe LQT2 mutations.

Kumawat A et al.

Journal of Biomedical Science, 2025

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S3_-_Case_series_OK.pdf

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

Martínez-Barrios E et al.

Human Genetics, 2024

Stereoselective block of the hERG potassium channel by the Class Ia antiarrhythmic drug disopyramide.

Zhang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Potassium dependent structural changes in the selectivity filter of HERG potassium channels.

Lau CHY et al.

Nature Communications, 2024

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.

Zhao Z et al.

Ebiomedicine, 2024

An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG.

Liu Z et al.

Bmc Biology, 2024

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Hancox JC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Enzastaurin cardiotoxicity: QT interval prolongation, negative inotropic responses and negative chronotropic action.

Zhang HQ et al.

Biochemical Pharmacology, 2023

Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

El Harchi A et al.

Journal of Arrhythmia, 2022

Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

Soohoo SM et al.

The Journal of Biological Chemistry, 2022

Structural modeling of the hERG potassium channel and associated drug interactions.

Maly J et al.

Frontiers in Pharmacology, 2022

Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.

Agudelo WA et al.

International Journal of Molecular Sciences, 2021

Mechanisms of gefitinib-induced QT prolongation.

Jie LJ et al.

European Journal of Pharmacology, 2021

Genetic and Molecular Aspects of Drug-Induced QT Interval Prolongation.

Baracaldo-Santamaría D et al.

International Journal of Molecular Sciences, 2021

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.

Bileišienė N et al.

Medicina (kaunas, Lithuania), 2021

High-Resolution Structures of K+ Channels.

Jiang QX

Handbook of Experimental Pharmacology, 2021

Molecular Insights Into the Gating Kinetics of the Cardiac hERG Channel, Illuminated by Structure and Molecular Dynamics.

Zequn Z et al.

Frontiers in Pharmacology, 2021

Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Zhang Y et al.

Physiological Reports, 2020

hERG Function in Light of Structure.

Robertson GA et al.

Biophysical Journal, 2020

Toward a Structural View of hERG Activation by the Small-Molecule Activator ICA-105574.

Zangerl-Plessl EM et al.

Journal of Chemical Information and Modeling, 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Identification of a proton sensor that regulates conductance and open time of single hERG channels.

Wilson SL et al.

Scientific Reports, 2019

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Campuzano O et al.

Journal of Clinical Medicine, 2019

Blockade of the Human Ether A-Go-Go-Related Gene (hERG) Potassium Channel by Fentanyl.

Tschirhart JN et al.

Molecular Pharmacology, 2019

Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Butler A et al.

Heliyon, 2019

An Update on the Structure of hERG.

Butler A et al.

Frontiers in Pharmacology, 2019

Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Butler A et al.

Physiological Reports, 2018

Multiple clinical profiles of families with the short QT syndrome.

Akdis D 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, 2018

Structural implications of hERG K+ channel block by a high-affinity minimally structured blocker.

Helliwell MV et al.

The Journal of Biological Chemistry, 2018

Glycosylation stabilizes hERG channels on the plasma membrane by decreasing proteolytic susceptibility.

Lamothe SM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2018

Investigating the state dependence of drug binding in hERG channels using a trapped-open channel phenotype.

Thouta S et al.

Scientific Reports, 2018

Structural insights into the mechanisms of CNBD channel function.

James ZM et al.

The Journal of General Physiology, 2018

Probing the molecular basis of hERG drug block with unnatural amino acids.

Macdonald LC et al.

Scientific Reports, 2018

In silico Assessment of Pharmacotherapy for Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome.

Whittaker DG et al.

Frontiers in Physiology, 2018

Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.

Gardner A et al.

Molecular Pharmacology, 2017

Towards a Structural View of Drug Binding to hERG K+ Channels.

Vandenberg JI et al.

Trends in Pharmacological Sciences, 2017

Modulation of Kv 11.1 (hERG) channels by 5-(((1H-indazol-5-yl)oxy)methyl)-N-(4-(trifluoromethoxy)phenyl)pyrimidin-2-amine (ITP-2), a novel small molecule activator.

Sale H et al.

British Journal of Pharmacology, 2017

Cryo-EM Structure of the Open Human Ether-à-go-go-Related K+ Channel hERG.

Wang W et al.

Cell, 2017

Molecular Basis of Cardiac Delayed Rectifier Potassium Channel Function and Pharmacology.

Wu W et al.

Cardiac Electrophysiology Clinics, 2016

Molecular basis of hERG potassium channel blockade by the class Ic antiarrhythmic flecainide.

Melgari D et al.

Journal of Molecular and Cellular Cardiology, 2015

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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."