Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G5D
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GJB1

NM_000166.6:p.G5D

Associated Papers

The carboxyl terminal residues 220-283 are not required for voltage gating of a chimeric connexin32 hemichannel.

Kwon T et al.

Biophysical Journal, 2013

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

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Charges dispersed over the permeation pathway determine the charge selectivity and conductance of a Cx32 chimeric hemichannel.

Oh S et al.

The Journal of Physiology, 2008

Determinants of gating polarity of a connexin 32 hemichannel.

Oh S et al.

Biophysical Journal, 2004

Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32.

Purnick PE et al.

Biophysical Journal, 2000

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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."