Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.G521V
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CASK

NM_001367721.1:p.G521V

Associated Papers

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.

Tibbe D et al.

Journal of Neurochemistry, 2025

Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH.

Zhang R et al.

Frontiers in Genetics, 2022

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

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