Varaico: Literature-Extracted Genetic Variants

Gene:ASIC1
Variant:p.G430V
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ASIC1

NM_001095.4:p.G430V

Associated Papers

Protons activate brain Na+ channel 1 by inducing a conformational change that exposes a residue associated with neurodegeneration.

Adams CM et al.

The Journal of Biological Chemistry, 1998

Mutations causing neurodegeneration in Caenorhabditis elegans drastically alter the pH sensitivity and inactivation of the mammalian H+-gated Na+ channel MDEG1.

Champigny G et al.

The Journal of Biological Chemistry, 1998

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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."