Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.C828Y
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KCNH2

NM_000238.4:p.C828Y

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA 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, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

A rare case with fetal autoimmune heart block and KNCH2 variant-induced long QT syndrome: a controversial opinion on prenatal management strategy.

Wei L et al.

Bmc Cardiovascular Disorders, 2023

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
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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."