Varaico: Literature-Extracted Genetic Variants

Gene:KCNE5
Variant:p.L65F
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KCNE5

NM_012282.4:p.L65F

Associated Papers

Genetic Basis of Brugada Syndrome.

Xie X et al.

Biomedicines, 2025

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

Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KV currents and predisposes to ventricular arrhythmia.

David JP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

KCNE4 and KCNE5: K(+) channel regulation and cardiac arrhythmogenesis.

Abbott GW

Gene, 2016

Genotype influence in responses to therapy for atrial fibrillation.

Huang H et al.

Expert Review of Cardiovascular Therapy, 2016

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

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

Improved understanding of the pathophysiology of atrial fibrillation through the lens of discrete pathological pathways.

Balouch MA et al.

Global Cardiology Science & Practice, 2014

Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.

Henrion U et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012

KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.

Ohno S et al.

Circulation. Arrhythmia and Electrophysiology, 2011

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.

Ravn LS et al.

Heart Rhythm, 2008

Ion channel mutations in AF: signal or noise?

Ellinor PT et al.

Heart Rhythm, 2008

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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."