Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q357R
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KCNQ1

NM_000218.3:p.Q357R

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Lee YK et al.

Cardiovascular Research, 2021

32173736 (PubMed )
Supplement: cvaa019_supplementary_data.docx

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Synková I et al.

Scientific Reports, 2021

33574382 (PubMed )
Supplement: 41598_2021_81670_MOESM1_ESM.pdf

Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

Chen J et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

Transient Outward K+ Current (Ito) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1.

Choi BR et al.

Circulation. Arrhythmia and Electrophysiology, 2018

In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Adeniran I et al.

Scientific Reports, 2017

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Cui J

Biophysical Journal, 2016

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING

Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

Li Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models.

Hoefen R et al.

Journal of the American College of Cardiology, 2012

Arrhythmia formation in subclinical ("silent") long QT syndrome requires multiple insults: quantitative mechanistic study using the KCNQ1 mutation Q357R as example.

O'Hara T et al.

Heart Rhythm, 2012

Silent mutation in long QT syndrome: pathogenicity prediction by computer simulation.

Bhuiyan ZA

Heart Rhythm, 2012

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

Eldstrom J et al.

The Journal of General Physiology, 2010

Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

Zheng R et al.

The Biochemical Journal, 2010

Functional effects of a KCNQ1 mutation associated with the long QT syndrome.

Boulet IR et al.

Cardiovascular Research, 2006

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Chen S et al.

Clinical Genetics, 2003

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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."