Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.D3Y
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GJA1

NM_000165.5:p.D3Y

Associated Papers

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

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

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Jiang JX

Current Molecular Medicine, 2010

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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."