Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.T448K
Back to variants list

PKD2

NM_000297.4:p.T448K

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

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

The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.

Shen PS et al.

Cell, 2016

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S et al.

Journal of the American Society of Nephrology : Jasn, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."