Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.T527M
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KCNA5

NM_002234.4:p.T527M

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

Application of clinical exome sequencing in sperm donor screening in China.

Huang J et al.

Journal of Assisted Reproduction and Genetics, 2025

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

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

Marcoux E et al.

Circulation. Arrhythmia and Electrophysiology, 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

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

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

Functional characterization of TRPM4 variants identified in sudden unexpected natural death.

Subbotina E et al.

Forensic Science International, 2018

Computational Study of the Loss-of-Function Mutations in the Kv1.5 Channel Associated with Atrial Fibrillation.

Rashid MH et al.

Acs Omega, 2018

Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.

Hayashi K et al.

Circulation. Arrhythmia and Electrophysiology, 2015

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

Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.

Fedele F et al.

Basic Research in Cardiology, 2013

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

Gaunt TR et al.

Circulation. Cardiovascular Genetics, 2012

23139254 (PubMed )
Supplement: 962852_supplemental_material.pdf

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

[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."