Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I130N
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GJA1

NM_000165.5:p.I130N

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

Modifications in the biophysical properties of connexin43 channels by a peptide of the cytoplasmic loop region.

Seki A et al.

Circulation Research, 2004

Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43.

Seki A et al.

Heart Rhythm, 2004

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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."