Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N175Y
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GJB1

NM_000166.6:p.N175Y

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

Cryo-EM structure of an open conformation of a gap junction hemichannel in lipid bilayer nanodiscs.

Khan AK et al.

Structure (london, England : 1993), 2021

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

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

Bai D et al.

The Biochemical Journal, 2014

A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant.

Gong XQ et al.

Journal of Cell Science, 2013

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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."