Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.M213L
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GJA1

NM_000165.5:p.M213L

Associated Papers

Exploring the Potent Roles of an Internally Translated Truncated Connexin-43 Isoform.

Maalouf M et al.

Biology, 2024

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein.

Shimura D et al.

Journal of Visualized Experiments : Jove, 2022

Caveolin-3 and Arrhythmias: Insights into the Molecular Mechanisms.

He M et al.

Journal of Clinical Medicine, 2022

GJA1-20k and Mitochondrial Dynamics.

Shimura D et al.

Frontiers in Physiology, 2022

Internal translation of Gja1 (Connexin43) to produce GJA1-20k: Implications for arrhythmia and ischemic-preconditioning.

Whisenant CC et al.

Frontiers in Physiology, 2022

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Blandin CE et al.

Cells, 2021

Auxiliary trafficking subunit GJA1-20k protects connexin-43 from degradation and limits ventricular arrhythmias.

Xiao S et al.

The Journal of Clinical Investigation, 2020

Gap junction protein Connexin-43 is a direct transcriptional regulator of N-cadherin in vivo.

Kotini M et al.

Nature Communications, 2018

Autoregulation of connexin43 gap junction formation by internally translated isoforms.

Smyth JW et al.

Cell Reports, 2013

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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."