Varaico: Literature-Extracted Genetic Variants

Gene:AKAP13
Variant:p.S850fs
Back to variants list

AKAP13

NM_007200.5:p.S850fs

Associated Papers

A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.

Krempely K et al.

Cold Spring Harbor Molecular Case Studies, 2018

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."