Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G294V
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KCNH2

NM_000238.4:p.G294V

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

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: Table1.XLSX › missense_variants

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Smith JL et al.

Circulation. Arrhythmia and Electrophysiology, 2018

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE et al.

Nature Reviews. Cardiology, 2017

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

Sudden infant death syndrome: do ion channels play a role?

Van Norstrand DW et al.

Heart Rhythm, 2009

Sudden infant death syndrome: how significant are the cardiac channelopathies?

Tester DJ et al.

Cardiovascular Research, 2005

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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."