Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.M507I
Back to variants list

CASK

NM_001367721.1:p.M507I

Associated Papers

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q et al.

Cells, 2023

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.

Pan YE et al.

Journal of Neurochemistry, 2021

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."