Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.G46E
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GJA8

NM_005267.5:p.G46E

Associated Papers

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.

Dong S et al.

European Journal of Human Genetics : Ejhg, 2024

Variants with increased negative electrostatic potential in the Cx50 gap junction pore increased unitary channel conductance and magnesium modulation.

Tejada MG et al.

The Biochemical Journal, 2018

The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.

Tong X et al.

Plos One, 2015

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

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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."