Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q1377*
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TSC2

NM_000548.5:p.Q1377*

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.

Giannikou K et al.

Histopathology, 2023

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 › tsc2

Genetic analysis of 18 families with tuberous sclerosis complex.

Yin K et al.

Neurogenetics, 2022

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Wang W et al.

Genetics and Molecular Biology, 2022

A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma.

Reed MR et al.

Cells, 2021

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Jiangyi W et al.

Aging, 2020

31927531 (PubMed )
Supplement: aging-12-102654-s001..xlsx › supplementary_table1

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

Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Alonso-Peña M et al.

Cancer Drug Resistance (alhambra, Calif.), 2019

Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.

Li S et al.

Human Pathology, 2018

TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.

Ho DWH et al.

Gut, 2017

Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.

Cai Y et al.

Urology, 2017

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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."