Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.T618A
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KCNH2

NM_000238.4:p.T618A

Associated Papers

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.

Chatelain FC 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, 2026

41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › All_missense_variants

KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation.

Bauer CK et al.

International Journal of Molecular Sciences, 2025

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

36860515 (PubMed )
Supplement: Table2.xlsx › missense_variants

Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Butler A et al.

Heliyon, 2019

Getting to the heart of hERG K(+) channel gating.

Perry MD et al.

The Journal of Physiology, 2015

Cooperative subunit interactions mediate fast C-type inactivation of hERG1 K+ channels.

Wu W et al.

The Journal of Physiology, 2014

Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

Perry MD et al.

The Journal of Biological Chemistry, 2013

Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.

Ferrer T et al.

The Journal of Biological Chemistry, 2011

Molecular determinants for activation of human ether-à-go-go-related gene 1 potassium channels by 3-nitro-n-(4-phenoxyphenyl) benzamide.

Garg V et al.

Molecular Pharmacology, 2011

Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

Grunnet M et al.

Molecular Pharmacology, 2011

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

Massaeli H et al.

Circulation Research, 2010

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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."