Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.C344S
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PKD2

NM_000297.4:p.C344S

Associated Papers

Differential modulation of polycystin-2 gain-of-function channels by cysteine-reactive compounds, amphiphilic substances, and S4-S5 linker mutations.

Geiges L et al.

The Journal of Biological Chemistry, 2025

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.

Vien TN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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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."