Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q600*
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TSC1

NM_000368.5:p.Q600*

Associated Papers

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

Blasco-Pérez L et al.

The Journal of Molecular Diagnostics : Jmd, 2023

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

Drosophila TCTP is essential for growth and proliferation through regulation of dRheb GTPase.

Hsu YC et al.

Nature, 2007

Akt regulates growth by directly phosphorylating Tsc2.

Potter CJ et al.

Nature Cell Biology, 2002

Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size.

Potter CJ et al.

Cell, 2001

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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."