Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R360G
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KCNQ1

NM_000218.3:p.R360G

Associated Papers

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

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Kang PW et al.

Science Advances, 2020

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

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx

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

Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

Eckey K et al.

The Journal of Biological Chemistry, 2014

Presentation and outcome of water-related events in children with long QT syndrome.

Albertella L et al.

Archives of Disease in Childhood, 2011

Characterization of a binding site for anionic phospholipids on KCNQ1.

Thomas AM et al.

The Journal of Biological Chemistry, 2011

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

Jons C et al.

Journal of Cardiovascular Electrophysiology, 2009

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Yang T et al.

Circulation. Arrhythmia and Electrophysiology, 2009

Long QT and Brugada syndrome gene mutations in New Zealand.

Chung SK et al.

Heart Rhythm, 2007

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

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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."