Varaico: Literature-Extracted Genetic Variants

Gene:PRKCE
Variant:p.E599K
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PRKCE

NM_005400.3:p.E599K

Associated Papers

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Bao YL et al.

Neuroscience Bulletin, 2025

Influence of PRKCE non-synonymous variants on protein dynamics and functionality.

Khan K et al.

Human Molecular Genetics, 2022

Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.

Kushi R et al.

Diabetology International, 2021

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Alcantara D et al.

Human Molecular 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."