Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.K1452N
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MTOR

NM_004958.4:p.K1452N

Associated Papers

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

Liu AC et al.

Hgg Advances, 2024

39030910 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein.

Yasmin T

Plos One, 2022

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Akahane T et al.

Bmc Medical Genomics, 2020

32652986 (PubMed )
Supplement: 12920_2020_753_MOESM2_ESM.xlsx › Sheet1

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

Xu J et al.

The Journal of Clinical Investigation, 2016

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › KIRC-mutations

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

Grabiner BC et al.

Cancer Discovery, 2014

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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."