Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.R255C
Back to variants list

CASK

NM_001367721.1:p.R255C

Associated Papers

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

Guo Q et al.

Cells, 2023

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.

Tibbe D et al.

Life Science Alliance, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T et al.

Intractable & Rare Diseases Research, 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."