Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.V2198A
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MTOR

NM_004958.4:p.V2198A

Associated Papers

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Nguyen LH et al.

Frontiers in Neuroanatomy, 2021

Pathological mTOR mutations impact cortical development.

Tarkowski B et al.

Human Molecular Genetics, 2019

ULK1 O-GlcNAcylation Is Crucial for Activating VPS34 via ATG14L during Autophagy Initiation.

Pyo KE et al.

Cell Reports, 2018

Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis.

Yue M et al.

The American Journal of Pathology, 2016

Unrestrained mammalian target of rapamycin complexes 1 and 2 increase expression of phosphatase and tensin homolog deleted on chromosome 10 to regulate phosphorylation of Akt kinase.

Das F et al.

The Journal of Biological Chemistry, 2012

Mammalian TOR signaling to the AGC kinases.

Su B et al.

Critical Reviews in Biochemistry and Molecular Biology, 2011

Activating mutations of TOR (target of rapamycin).

Hardt M et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2011

Activating mutations in TOR are in similar structures as oncogenic mutations in PI3KCalpha.

Sturgill TW et al.

Acs Chemical Biology, 2009

Isolation of hyperactive mutants of mammalian target of rapamycin.

Ohne Y et al.

The Journal of Biological Chemistry, 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."