Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.M163V
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GJA5

NM_181703.4:p.M163V

Associated Papers

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

Noureldin M et al.

International Journal of Molecular Sciences, 2018

Altered conductance and permeability of Cx40 mutations associated with atrial fibrillation.

Santa Cruz A et al.

The Journal of General Physiology, 2015

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated.

Gemel J et al.

Journal of Molecular and Cellular Cardiology, 2014

An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.

Sun Y et al.

Disease Models & Mechanisms, 2014

Atrial fibrillation-associated connexin40 mutants make hemichannels and synergistically form gap junction channels with novel properties.

Patel D et al.

Febs Letters, 2014

Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.

Bai D

Febs Letters, 2014

Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.

Shi HF et al.

Molecular Medicine Reports, 2013

Cardiac connexins, mutations and arrhythmias.

Delmar M et al.

Current Opinion in Cardiology, 2012

Novel connexin40 missense mutations in patients with familial atrial fibrillation.

Yang YQ et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010

Atrial fibrillation: evidence for genetically determined disease.

Andalib A et al.

Current Opinion in Cardiology, 2008

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.

Gollob MH et al.

The New England Journal of Medicine, 2006

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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."