Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R6G
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PKD2

NM_000297.4:p.R6G

Associated Papers

Channel Function of Polycystin-2 in the Endoplasmic Reticulum Protects against Autosomal Dominant Polycystic Kidney Disease.

Padhy B et al.

Journal of the American Society of Nephrology : Jasn, 2022

Retromer associates with the cytoplasmic amino-terminus of polycystin-2.

Tilley FC et al.

Journal of Cell Science, 2018

Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2.

Yoshiba S et al.

Science (new York, N.y.), 2012

Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.

Geng L et al.

Journal of Cell Science, 2006

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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."