Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R76G
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GJA1

NM_000165.5:p.R76G

Associated Papers

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

Zhang M et al.

Bmc Molecular and Cell Biology, 2020

Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

Abrams CK et al.

American Journal of Physiology. Cell Physiology, 2018

Connexin mutants and cataracts.

Beyer EC et al.

Frontiers in Pharmacology, 2013

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."