Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S50P
Back to variants list

GJA1

NM_000165.5:p.S50P

Associated Papers

Mutations of CX46/CX50 and Cataract Development.

Shi Y et al.

Frontiers in Molecular Biosciences, 2022

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.

DeRosa AM et al.

Experimental Cell Research, 2009

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.

Xia CH et al.

Development (cambridge, England), 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."