Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G628A
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KCNH2

NM_000238.4:p.G628A

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

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

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

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

Massaeli H et al.

Circulation Research, 2010

Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.

Horigome H et al.

Circulation. Arrhythmia and Electrophysiology, 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."