Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.L499P
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KCNH2

NM_000238.4:p.L499P

Associated Papers

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Hancox JC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

Preclinical short QT syndrome models: studying the phenotype and drug-screening.

Fan X et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2022

Utility of Zebrafish Models of Acquired and Inherited Long QT Syndrome.

Simpson KE et al.

Frontiers in Physiology, 2020

Interactions between voltage sensor and pore domains in a hERG K+ channel model from molecular simulations and the effects of a voltage sensor mutation.

Colenso CK et al.

Journal of Chemical Information and Modeling, 2013

Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel.

El Harchi A et al.

Plos One, 2012

The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C.

Zhang YH et al.

Biochimica Et Biophysica Acta, 2011

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