Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A547T
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KCNH2

NM_000238.4:p.A547T

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

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1.

Kozek KA et al.

Heart Rhythm, 2020

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM8_ESM.xlsx › Sheet1
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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."