Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.L2216H
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MTOR

NM_004958.4:p.L2216H

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

Evaluation of mTOR function by a gain-of-function approach.

Ohne Y et al.

Cell Cycle (georgetown, Tex.), 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."