Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E48G
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KCNA5

NM_002234.4:p.E48G

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

In-silico investigations of the functional impact of KCNA5 mutations on atrial mechanical dynamics.

Ni H et al.

Journal of Molecular and Cellular Cardiology, 2017

In silico assessment of genetic variation in KCNA5 reveals multiple mechanisms of human atrial arrhythmogenesis.

Colman MA et al.

Plos Computational Biology, 2017

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.

Olesen MS et al.

Heart Rhythm, 2014

Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation.

Christophersen IE et al.

European Heart Journal, 2013

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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."