Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D3G
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GJA3

NM_021954.4:p.D3G

Associated Papers

Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.

Schlingmann B et al.

Journal of Bioenergetics and Biomembranes, 2012

Correlative studies of gating in Cx46 and Cx50 hemichannels and gap junction channels.

Srinivas M et al.

Biophysical Journal, 2005

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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."