Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Q738*
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KCNH2

NM_000238.4:p.Q738*

Associated Papers

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

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

Kojima A et al.

British Journal of Pharmacology, 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

A computational analysis of the effect of sevoflurane in a human ventricular cell model of long QT syndrome: Importance of repolarization reserve in the QT-prolonging effect of sevoflurane.

Kojima A et al.

European Journal of Pharmacology, 2020

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

Propofol inhibits hERG K+ channels and enhances the inhibition effects on its mutations in HEK293 cells.

Han SN et al.

European Journal of Pharmacology, 2016

Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2.

Han SN et al.

International Journal of Molecular Medicine, 2014

A family of hereditary long QT syndrome caused by Q738X HERG mutation.

Yasuda S et al.

International Journal of Cardiology, 2010

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

Nagaoka I et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

Open-loop, clockwise QT-RR hysteresis immediately before the onset of torsades de pointes in type 2 long QT syndrome.

Nakaji G et al.

Journal of Electrocardiology, 0

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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."