Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E610K
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KCNA5

NM_002234.4:p.E610K

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

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Li W et al.

Stroke and Vascular Neurology, 2024

37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf

Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.

Marcoux E et al.

Circulation. Arrhythmia and Electrophysiology, 2023

Engineering a precise adenine base editor with minimal bystander editing.

Chen L et al.

Nature Chemical Biology, 2023

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

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

KCNA5 gene polymorphism associate with idiopathic atrial fibrillation.

Tian L et al.

International Journal of Clinical and Experimental Medicine, 2015

The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.

Young JC

Disease Models & Mechanisms, 2014

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

[Identification and functional analysis of a KCNA5 mutation responsible for idiopathic atrial fibrillation].

Yang YQ et al.

Zhonghua Yi Xue Za Zhi, 2010

Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.

Yang Y et al.

Journal of Human Genetics, 2009

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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."