Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.I10L
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GJA8

NM_005267.5:p.I10L

Associated Papers

Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43.

Wong RS et al.

American Journal of Physiology. Cell Physiology, 2024

The Hydrophobic Residues in Amino Terminal Domains of Cx46 and Cx50 Are Important for Their Gap Junction Channel Ion Permeation and Gating.

Jaradat R et al.

International Journal of Molecular Sciences, 2022

Functional roles of the amino terminal domain in determining biophysical properties of Cx50 gap junction channels.

Xin L et al.

Frontiers in Physiology, 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."