Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.G418V
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PKD2

NM_000297.4:p.G418V

Associated Papers

The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.

Wang Y et al.

The Journal of Biological Chemistry, 2023

Structure of the polycystic kidney disease TRP channel Polycystin-2 (PC2).

Grieben M et al.

Nature Structural & Molecular Biology, 2017

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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."