Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T135A
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GJB2

NM_004004.6:p.T135A

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

Cell coupling mediated by connexin 26 selectively contributes to reduced adhesivity and increased migration.

Polusani SR et al.

Journal of Cell Science, 2016

A dominant negative Cx43 mutant differentially affects tumorigenic and invasive properties in human metastatic melanoma cells.

Zucker SN et al.

Journal of Cellular Physiology, 2013

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

Ambrosi C et al.

Biophysical Journal, 2010

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E et al.

Brain Research, 2009

Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel.

Beahm DL et al.

The Journal of Biological Chemistry, 2006

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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."