Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R325P
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PKD2

NM_000297.4:p.R325P

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 and function of polycystin channels in primary cilia.

Ta CM et al.

Cellular Signalling, 2020

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

Extracellular Loops Are Essential for the Assembly and Function of Polycystin Receptor-Ion Channel Complexes.

Salehi-Najafabadi Z et al.

The Journal of Biological Chemistry, 2017

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

Grieben M et al.

Nature Structural & Molecular Biology, 2017

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.

Arif Pavel M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

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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."