Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.Q58L
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GJA5

NM_181703.4:p.Q58L

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA 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, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

The Role of TOMM40 in Cardiovascular Mortality and Conduction Disorders: An Observational Study.

Di Stolfo G et al.

Journal of Clinical Medicine, 2024

Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.

Bai D et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Inherited bradyarrhythmia: A diverse genetic background.

Ishikawa T et al.

Journal of Arrhythmia, 2016

Inherited progressive cardiac conduction disorders.

Baruteau AE et al.

Current Opinion in Cardiology, 2015

Structural determinants and proliferative consequences of connexin 37 hemichannel function in insulinoma cells.

Good ME et al.

The Journal of Biological Chemistry, 2014

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

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

Bai D

Febs Letters, 2014

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D et al.

The Biochemical Journal, 2014

Cardiac connexins, mutations and arrhythmias.

Delmar M et al.

Current Opinion in Cardiology, 2012

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

Makita N et al.

Circulation. Arrhythmia and Electrophysiology, 2012

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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."