Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.K167E
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GJB1

NM_000166.6:p.K167E

Associated Papers

Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.

Bai D et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D et al.

The Biochemical Journal, 2014

Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26.

Nakagawa S et al.

The Journal of Biological Chemistry, 2011

Molecular genetic analysis of the GJB1 gene: a study of six mutations.

Kochański A et al.

Journal of Applied Genetics, 2004

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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."