Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S330A
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GJA1

NM_000165.5:p.S330A

Associated Papers

Channel Behavior and Voltage Gating of a Cx43 Mutant Simulating Preconditioning.

Ek-Vitorin JF et al.

Bioelectricity, 2023

Remodeled connexin 43 hemichannels alter cardiac excitability and promote arrhythmias.

Lillo MA et al.

The Journal of General Physiology, 2023

37191672 (PubMed )
Supplement: JGP_202213150_review_history.pdf

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

Phosphorylation of connexin 43 at MAPK, PKC or CK1 sites each distinctly alter the kinetics of epidermal wound repair.

Lastwika KJ et al.

Journal of Cell Science, 2019

Cx43 phosphorylation-mediated effects on ERK and Akt protect against ischemia reperfusion injury and alter the stability of the stress-inducible protein NDRG1.

Solan JL et al.

The Journal of Biological Chemistry, 2019

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.

Huang GY et al.

Journal of Cardiovascular Disease Research, 2011

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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."