Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.T74A
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KCNH2

NM_000238.4:p.T74A

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

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

Systematic Assessment of Protein C-Termini Mutated in Human Disorders.

FitzHugh ZT et al.

Biomolecules, 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: Table1.XLSX › missense_variants

Differential Regulation of Human Ether-à-Go-Go-Related Gene (hERG) Current and Expression by Activation of Protein Kinase C.

Sutherland-Deveen ME et al.

Molecular Pharmacology, 2019

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

Zhang L et al.

Circulation, 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."