Varaico: Literature-Extracted Genetic Variants

Gene:ASIC2
Variant:p.L175L
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ASIC2

NM_183377.2:p.L175L

Associated Papers

Mutations in the pore region modify epithelial sodium channel gating by shear stress.

Carattino MD et al.

The Journal of Biological Chemistry, 2005

Subunit stoichiometry of the epithelial sodium channel.

Kosari F et al.

The Journal of Biological Chemistry, 1998

Identification of amino acid residues in the alpha, beta, and gamma subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation.

Schild L et al.

The Journal of General Physiology, 1997

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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."