Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.D3N
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GJA8

NM_005267.5:p.D3N

Associated Papers

The amino terminal domain plays an important role in transjunctional voltage-dependent gating kinetics of Cx45 gap junctions.

Santos-Miranda A et al.

Journal of Molecular and Cellular Cardiology, 2020

Variants with increased negative electrostatic potential in the Cx50 gap junction pore increased unitary channel conductance and magnesium modulation.

Tejada MG et al.

The Biochemical Journal, 2018

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Shao Q et al.

Molecular Biology of the Cell, 2012

The role of amino terminus of mouse Cx50 in determining transjunctional voltage-dependent gating and unitary conductance.

Xin L et al.

Biophysical Journal, 2010

Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50.

Peracchia C et al.

American Journal of Physiology. Cell Physiology, 2005

Correlative studies of gating in Cx46 and Cx50 hemichannels and gap junction channels.

Srinivas M et al.

Biophysical Journal, 2005

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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."