Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.L221I
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GJA5

NM_181703.4:p.L221I

Associated Papers

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

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

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

Noureldin M et al.

International Journal of Molecular Sciences, 2018

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

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

Bai D

Febs Letters, 2014

Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.

Sun Y et al.

Plos One, 2014

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

Shi HF et al.

Molecular Medicine Reports, 2013

[Genetic predictors of sick sinus node syndrome].

Chernova AA et al.

Kardiologiia, 2013

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

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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."