Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.D3Y
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GJA8

NM_005267.5:p.D3Y

Associated Papers

Mutation analysis in Chinese families with autosomal dominant hereditary cataracts.

Yang Z et al.

Current Eye Research, 2015

Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.

Tong JJ et al.

American Journal of Physiology. Cell Physiology, 2013

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."