Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1005W
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KCNH2

NM_000238.4:p.R1005W

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

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

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

Tester DJ et al.

Journal of the American College of Cardiology, 2018

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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."