Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.M437V
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KCNQ1

NM_000218.3:p.M437V

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

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events.

Lu H et al.

Frontiers in Cardiovascular Medicine, 2022

Elevation of propofol sensitivity of cardiac IKs channel by KCNE1 polymorphism D85N.

Kojima A et al.

British Journal of Pharmacology, 2021

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Electrophysiological properties of iPS cell-derived cardiomyocytes from a patient with long QT syndrome type 1 harboring the novel mutation M437V of KCNQ1.

Sogo T et al.

Regenerative Therapy, 2016

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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."