Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E16Q
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GJA8

NM_005267.5:p.E16Q

Associated Papers

Gating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.

Bargiello TA et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.

Tong X et al.

The Journal of Physiology, 2014

Loop gating of connexin hemichannels involves movement of pore-lining residues in the first extracellular loop domain.

Verselis VK et al.

The Journal of Biological Chemistry, 2009

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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."