Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q527*
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TSC1

NM_000368.5:p.Q527*

Associated Papers

Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).

McCarthy M et al.

Mayo Clinic Proceedings, 2026

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM10_ESM.xlsx › SEGA

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Genomic Profiles and Clinical Outcomes of Penile Squamous Cell Carcinoma With Elevated Tumor Mutational Burden.

Necchi A et al.

Jama Network Open, 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

Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_DNA_only

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma.

Bi H et al.

Translational Andrology and Urology, 2020

33457247 (PubMed )
Supplement: tau-09-06-2751-supplementary.pdf

[Genetic analysis of three fetusesaffected with cardiac rhabdomyomas].

Hou R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma.

Bellmunt J et al.

British Journal of Cancer, 2018

Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy.

Voss MH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

Spectrum of phosphatidylinositol 3-kinase pathway gene alterations in bladder cancer.

Platt FM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

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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."