Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.R2505P
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MTOR

NM_004958.4:p.R2505P

Associated Papers

mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.

Liu Y et al.

Journal of Chemical Information and Modeling, 2025

39792006 (PubMed )
Supplement: ci4c02022_si_002.xlsx › Sheet1

The mTOR pathway controls phosphorylation of BRAF at T401.

Christen D et al.

Cell Communication and Signaling : Ccs, 2024

mTOR hyperactivity and RICTOR amplification as targets for personalized treatments in malignancies.

Sztankovics D et al.

Pathology Oncology Research : Por, 2024

Role of mammalian target of rapamycin (mTOR) signalling in oncogenesis.

El-Tanani M et al.

Life Sciences, 2023

mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.

Liu HJ et al.

Nature Communications, 2023

Intracellular energy controls dynamics of stress-induced ribonucleoprotein granules.

Wang T et al.

Nature Communications, 2022

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

Guerrini R et al.

Neurology. Genetics, 2021

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Nguyen LH et al.

Frontiers in Neuroanatomy, 2021

mTOR: Role in cancer, metastasis and drug resistance.

Murugan AK

Seminars in Cancer Biology, 2019

Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.

Di Cosimo S et al.

Cancers, 2019

31717320 (PubMed )
Supplement: cancers-11-01753-s001.zip › TableS2.xlsx › Supplementary_Table_Mutazioni

Pathological mTOR mutations impact cortical development.

Tarkowski B et al.

Human Molecular Genetics, 2019

Identification and characterization of two novel oncogenic mTOR mutations.

Murugan AK et al.

Oncogene, 2019

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › Combined_All

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM5_ESM.pdf

Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Karube K et al.

Leukemia, 2018

28804123 (PubMed )
Supplement: leu2017251x2.xlsx › TABLE_S13

Constitutive Activation Mutant mTOR Promote Cone Survival in Retinitis Pigmentosa Mice.

Rajala A et al.

Advances in Experimental Medicine and Biology, 2018

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1

A Kinase Inhibitor Targeted to mTORC1 Drives Regression in Glioblastoma.

Fan Q et al.

Cancer Cell, 2017

Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin.

Xu J et al.

The Journal of Clinical Investigation, 2016

Transforming somatic mutations of mammalian target of rapamycin kinase in human cancer.

Yamaguchi H et al.

Cancer Science, 2015

Molecular genetics of clear-cell renal cell carcinoma.

Brugarolas J

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.

Wagle N et al.

Cancer Discovery, 2014

A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.

Grabiner BC et al.

Cancer Discovery, 2014

Mutations in critical domains confer the human mTOR gene strong tumorigenicity.

Murugan AK et al.

The Journal of Biological Chemistry, 2013

Activating mutations of TOR (target of rapamycin).

Hardt M et al.

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

Single amino-acid changes that confer constitutive activation of mTOR are discovered in human cancer.

Sato T et al.

Oncogene, 2010

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-4.xls › Sheet1
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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."