Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G46C
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GJA3

NM_021954.4:p.G46C

Associated Papers

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

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels.

Kronengold J et al.

The Journal of General Physiology, 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."