Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R65Q
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CDKL5

NM_001323289.2:p.R65Q

Associated Papers

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

Paul SK et al.

International Journal of Molecular Sciences, 2025

KinaseMD: kinase mutations and drug response database.

Hu R et al.

Nucleic Acids Research, 2021

33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

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

Katayama S et al.

Neural Plasticity, 2020

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

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613705_nwcnpj.xlsx › 16_MAF_cell_line

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H et al.

Journal of Medical Genetics, 2008

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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."