Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E518A
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KCNH2

NM_000238.4:p.E518A

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

Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Dennis AT et al.

Molecular Pharmacology, 2012

Intracellular potassium stabilizes human ether-à-go-go-related gene channels for export from endoplasmic reticulum.

Wang L et al.

Molecular Pharmacology, 2009

Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.

Fernandez D et al.

The Journal of Physiology, 2005

A novel extracellular calcium sensing mechanism in voltage-gated potassium ion channels.

Johnson JP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001

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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."