Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E636fs
Back to variants list

TSC1

NM_000368.5:p.E636fs

Associated Papers

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.

Ribierre T et al.

Nature Neuroscience, 2024

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1

A Hepatocellular Carcinoma Patient with TSC1 Mutations Benefits from Treatment with Everolimus: A Case Report.

Shi HS et al.

Visceral Medicine, 2021

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours.

Zhang Z et al.

Oncology Letters, 2017

The evolving genomic landscape of urothelial carcinoma.

Glaser AP et al.

Nature Reviews. Urology, 2017

Bladder Cancer and Genetic Mutations.

Zhang X et al.

Cell Biochemistry and Biophysics, 2015

Genome sequencing identifies a basis for everolimus sensitivity.

Iyer G et al.

Science (new York, N.y.), 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."