Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D580A
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KCNH2

NM_000238.4:p.D580A

Associated Papers

The Human Ether-a-go-go-related Gene (hERG) Potassium Channel Represents an Unusual Target for Protease-mediated Damage.

Lamothe SM et al.

The Journal of Biological Chemistry, 2016

Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Dennis AT et al.

Molecular Pharmacology, 2012

Extracellular K+ is a prerequisite for the function and plasma membrane stability of HERG channels.

Massaeli H et al.

Circulation Research, 2010

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

Mapping the receptor site for ergtoxin, a specific blocker of ERG channels.

Pardo-López L et al.

Febs Letters, 2002

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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."