Varaico: Literature-Extracted Genetic Variants

Gene:TAOK2
Variant:p.A135P
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TAOK2

NM_016151.4:p.A135P

Associated Papers

Neurodevelopmental impact of CNV models in ASD: Recent advances and future directions.

Tamada K et al.

Current Opinion in Neurobiology, 2025

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Elkhateeb N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation.

Henis M et al.

Science Advances, 2024

Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.

Murtaza N et al.

Cell Reports, 2022

TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model.

Scharrenberg R et al.

Molecular Psychiatry, 2022

Clinical and Neurobiological Aspects of TAO Kinase Family in Neurodevelopmental Disorders.

Hu C et al.

Frontiers in Molecular Neuroscience, 2021

Conserved Tao Kinase Activity Regulates Dendritic Arborization, Cytoskeletal Dynamics, and Sensory Function in Drosophila.

Hu C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

Richter M et al.

Molecular Psychiatry, 2019

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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."