Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q1178*
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TSC2

NM_000548.5:p.Q1178*

Associated Papers

Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy.

Ruan Y et al.

Frontiers in Pediatrics, 2026

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Targeted therapy with vemurafenib in BRAF(V600E)-mutated anaplastic thyroid cancer.

Lang M et al.

Thyroid Research, 2023

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.

Tian X et al.

Annals of the American Thoracic Society, 2021

33171065 (PubMed )
Supplement: tian_data_supplement.pdf

Gene Mutation Analysis in Papillary Thyroid Carcinoma Using a Multi-Gene Panel in China.

Wang Q et al.

International Journal of General Medicine, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Reyna-Fabián ME et al.

Scientific Reports, 2020

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Zhang N et al.

Frontiers in Genetics, 2020

33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1

mTOR: Role in cancer, metastasis and drug resistance.

Murugan AK

Seminars in Cancer Biology, 2019

Driver Mutations in Normal Airway Epithelium Elucidate Spatiotemporal Resolution of Lung Cancer.

Kadara H et al.

American Journal of Respiratory and Critical Care Medicine, 2019

30896962 (PubMed )
Supplement: kadara_supplementary_tables_e4_and_e5.xlsx › E4_MutationCalls

Clinical response to everolimus in a patient with Hodgkin's lymphoma harboring a TSC2 mutation.

Perini GF et al.

Blood Cancer Journal, 2016

Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus.

Huynh H et al.

Molecular Cancer Therapeutics, 2015

Response and acquired resistance to everolimus in anaplastic thyroid cancer.

Wagle N et al.

The New England Journal of Medicine, 2014

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y et al.

Human Mutation, 1999

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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."