Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.V289D
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GJA1

NM_000165.5:p.V289D

Associated Papers

HepaCAM controls astrocyte self-organization and coupling.

Baldwin KT et al.

Neuron, 2021

Kinase programs spatiotemporally regulate gap junction assembly and disassembly: Effects on wound repair.

Solan JL et al.

Seminars in Cell & Developmental Biology, 2016

Phosphorylation on Ser-279 and Ser-282 of connexin43 regulates endocytosis and gap junction assembly in pancreatic cancer cells.

Johnson KE et al.

Molecular Biology of the Cell, 2013

Mechanisms of gap junction traffic in health and disease.

Hesketh GG et al.

Journal of Cardiovascular Pharmacology, 2009

A tyrosine-based sorting signal is involved in connexin43 stability and gap junction turnover.

Thomas MA et al.

Journal of Cell Science, 2003

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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."