Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.R132H
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MTOR

NM_004958.4:p.R132H

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

All-trans retinoic acid induces durable tumor immunity in IDH-mutant gliomas by rescuing transcriptional repression of the CRBP1-retinoic acid axis.

Rao A et al.

Biorxiv : the Preprint Server for Biology, 2024

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.

Yeo KK et al.

Neuro-oncology, 2023

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.

Kohsaka S et al.

Npj Precision Oncology, 2022

36333410 (PubMed )
Supplement: 41698_2022_324_MOESM3_ESM.xlsx › Mutations

The Energy Status of Astrocytes Is the Achilles' Heel of eIF2B-Leukodystrophy.

Herrero M et al.

Cells, 2021

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM7_ESM.xlsx › Solid_Tumors

eIF2B activator prevents neurological defects caused by a chronic integrated stress response.

Wong YL et al.

Elife, 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 › TAM_All

Molecular classification of gliomas.

Masui K et al.

Handbook of Clinical Neurology, 2016

Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.

Gat-Viks I et al.

Journal of Neurochemistry, 2015

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M et al.

Human Mutation, 2012

The association of Klotho polymorphism with disease progression and mortality in IgA nephropathy.

Ko GJ et al.

Kidney & Blood Pressure Research, 2012

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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."