Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q785*
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TSC2

NM_000548.5:p.Q785*

Associated Papers

Chromophobe thyroid carcinoma: a distinct entity associated with TSC gene alterations.

Harahap AS et al.

Virchows Archiv : an International Journal of Pathology, 2026

CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.

Jesus TT et al.

Npj Precision Oncology, 2025

41350422 (PubMed )
Supplement: 41698_2025_1210_MOESM1_ESM.pdf

Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Marques P et al.

Epilepsy Research, 2024

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.

Pal D et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Solitary scalp folliculocystic and collagen hamartoma caused by c.2353C>T TSC2 somatic mutation in a sporadic case of tuberous sclerosis complex with calvarial fibrous dysplasia.

Qiu F et al.

European Journal of Dermatology : Ejd, 2023

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.

Zou D et al.

Brain : a Journal of Neurology, 2021

34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf

Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.

Kútna V et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.

Giannikou K et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Bongaarts A et al.

Oncotarget, 2017

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

Overwater IE et al.

European Journal of Human Genetics : Ejhg, 2016

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Choi JE et al.

Brain & Development, 2006

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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."