Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K13E
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GJA1

NM_000165.5:p.K13E

Associated Papers

Polyamine sensitivity of gap junctions is required for skin pattern formation in zebrafish.

Watanabe M et al.

Scientific Reports, 2012

N-terminal residues in Cx43 and Cx40 determine physiological properties of gap junction channels, but do not influence heteromeric assembly with each other or with Cx26.

Gemel J et al.

Journal of Cell Science, 2006

An amino-terminal lysine residue of rat connexin40 that is required for spermine block.

Lin X et al.

The Journal of Physiology, 2006

Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions.

Musa H et al.

The Journal of Physiology, 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."