Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G229D
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KCNQ1

NM_000218.3:p.G229D

Associated Papers

Feedback from the Nascent Chain Triggers Ribosomal Frameshifting and Transcript Decay.

Carmody PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41509397 (PubMed )
Supplement: media-1.pdf

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-2.xlsx › File_S2

Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.

Nakajima T et al.

Frontiers in Physiology, 2024

Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

Verkerk AO et al.

International Journal of Molecular Sciences, 2023

Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Phul S et al.

Plos Computational Biology, 2022

35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L et al.

Jama Cardiology, 2021

Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Belletti R et al.

Frontiers in Physiology, 2021

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Heikhmakhtiar AK et al.

Journal of Korean Medical Science, 2020

Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry.

Heikhmakhtiar AK et al.

Medical & Biological Engineering & Computing, 2020

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Lin Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.

Jeong DU et al.

Computational and Mathematical Methods in Medicine, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Zhou X et al.

Frontiers in Physiology, 2019

Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.

Yuniarti AR et al.

International Journal for Numerical Methods in Biomedical Engineering, 2018

Influence of the KCNQ1 S140G Mutation on Human Ventricular Arrhythmogenesis and Pumping Performance: Simulation Study.

Jeong DU et al.

Frontiers in Physiology, 2018

Computational simulations of the effects of the G229D KCNQ1 mutation on human atrial fibrillation.

Zulfa I et al.

The Journal of Physiological Sciences : Jps, 2016

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

Recent molecular insights from mutated IKS channels in cardiac arrhythmia.

Dvir M et al.

Current Opinion in Pharmacology, 2014

A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

Hasegawa K et al.

Heart Rhythm, 2014

Cardiac channelopathies in pediatric patients - 7-years single center experience.

Illikova V et al.

Journal of Electrocardiology, 0

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

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