Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E375*
Back to variants list

KCNA5

NM_002234.4:p.E375*

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

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

Marcoux E et al.

Circulation. Arrhythmia and Electrophysiology, 2023

Heritable arrhythmias associated with abnormal function of cardiac potassium channels.

Crotti L et al.

Cardiovascular Research, 2020

Genotype influence in responses to therapy for atrial fibrillation.

Huang H et al.

Expert Review of Cardiovascular Therapy, 2016

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

Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.

Shimizu W et al.

Circulation Research, 2011

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

[Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels W822X].

Zhang JT et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2011

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

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

Yang YQ et al.

Zhonghua Yi Xue Za Zhi, 2010

Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.

Teng S et al.

Cardiovascular Research, 2009

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

Yang Y et al.

Journal of Human Genetics, 2009

Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.

Yao Y et al.

Heart Rhythm, 2009

Introducing sense into nonsense in treatments of human genetic diseases.

Linde L et al.

Trends in Genetics : Tig, 2008

The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG).

Sinner MF et al.

European Heart Journal, 2008

A pilot study to estimate the feasibility of assessing the relationships between polymorphisms in hKv1.5 and atrial fibrillation in patients following coronary artery bypass graft surgery.

Plante I et al.

The Canadian Journal of Cardiology, 2008

Atrial fibrillation--a new cardiac channelopathy.

Otway R et al.

Heart, Lung & Circulation, 2007

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy.

Zingman LV et al.

Clinical Pharmacology and Therapeutics, 2007

Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.

Olson TM et al.

Human Molecular Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."