Varaico: Literature-Extracted Genetic Variants

Gene:AKT3
Variant:p.K177M
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AKT3

NM_005465.7:p.K177M

Associated Papers

Analysis of the Human Kinome and Phosphatome by Mass Cytometry Reveals Overexpression-Induced Effects on Cancer-Related Signaling.

Lun XK et al.

Molecular Cell, 2019

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D et al.

Brain : a Journal of Neurology, 2017

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.

Baek ST et al.

Nature Medicine, 2015

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Nellist M et al.

Molecular Genetics and Metabolism, 2015

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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."