Varaico: Literature-Extracted Genetic Variants

Gene:PCSK2
Variant:p.S349P
Back to variants list

PCSK2

NM_002594.5:p.S349P

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

Grieben M et al.

Nature Structural & Molecular Biology, 2017

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."