Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A173D
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CDKL5

NM_001323289.2:p.A173D

Associated Papers

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.

Paul SK et al.

International Journal of Molecular Sciences, 2025

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.

Katayama S et al.

Neural Plasticity, 2020

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.

Fahmi M et al.

International Journal of Molecular Sciences, 2019

31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4

Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.

Fazzari M et al.

Rna Biology, 2019

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

Muñoz IM et al.

The Embo Journal, 2018

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD et al.

Neurology. Genetics, 2017

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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."