Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.Q49H
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GJA1

NM_000165.5:p.Q49H

Associated Papers

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

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

The highly conserved Gln49 and Ser50 of mammalian connexin43 are present in chick connexin43 and essential for functional gap junction channels.

Sokolova IV et al.

Cell Communication & Adhesion, 0

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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."