Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q343*
Back to variants list

TSC1

NM_000368.5:p.Q343*

Associated Papers

Multidirectional characterization of cellular composition and spatial architecture in human multiple primary lung cancers.

Wang Y et al.

Cell Death & Disease, 2023

37488117 (PubMed )
Supplement: 41419_2023_5992_MOESM3_ESM.xls › MPLC_P2-P31

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

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Luo C et al.

Orphanet Journal of Rare Diseases, 2022

35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc1

Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1.

Mehta S et al.

Journal of the Endocrine Society, 2019

Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature.

Mortaji P et al.

Familial Cancer, 2018

Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Chen YB et al.

Nature Communications, 2016

27713405 (PubMed )
Supplement: ncomms13131-s3.xlsx › All_mutations

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Tyburczy ME et al.

Human Molecular Genetics, 2014

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."