Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L1
Variant:p.D525N
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PKD2L1

NM_016112.3:p.D525N

Associated Papers

A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts.

Grosch M et al.

Journal of Cell Science, 2021

Cryo-EM structure of the polycystin 2-l1 ion channel.

Hulse RE et al.

Elife, 2018

Atypical calcium regulation of the PKD2-L1 polycystin ion channel.

DeCaen PG et al.

Elife, 2016

The single pore residue Asp523 in PKD2L1 determines Ca2+ permeation of the PKD1L3/PKD2L1 complex.

Fujimoto C et al.

Biochemical and Biophysical Research Communications, 2011

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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."