Varaico: Literature-Extracted Genetic Variants

Gene:AMPH
Variant:p.S293A
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AMPH

NM_001635.4:p.S293A

Associated Papers

Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.

Kontaxi C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023

Expression analyses of splice variants of zebrafish cyclin-dependent kinase-like 5 and its substrate, amphiphysin 1.

Katayama S et al.

Gene, 2016

Critical Determinants of Substrate Recognition by Cyclin-Dependent Kinase-like 5 (CDKL5).

Katayama S et al.

Biochemistry, 2015

Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.

Sekiguchi M et al.

Archives of Biochemistry and Biophysics, 2013

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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."