Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.A84T
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TSC1

NM_000368.5:p.A84T

Associated Papers

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Jikuya R et al.

Ebiomedicine, 2023

37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_germline_variants

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu YX et al.

Frontiers in Cardiovascular Medicine, 2022

36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1

Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Hagio K et al.

Scientific Reports, 2021

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.

Meng Y et al.

Journal of Human Genetics, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Genetic Profile of Adenomatoid Odontogenic Tumor and Ameloblastoma. A Systematic Review.

Marín C et al.

Frontiers in Oral Health, 2021

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

Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.

Ni J et al.

Scientific Reports, 2019

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Analysis of TSC1 mutation spectrum in mucosal melanoma.

Ma M et al.

Journal of Cancer Research and Clinical Oncology, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Cis-oriented solvent-front EGFR G796S mutation in tissue and ctDNA in a patient progressing on osimertinib: a case report and review of the literature.

Klempner SJ et al.

Lung Cancer (auckland, N.z.), 2017

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1

Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations.

Sun W et al.

Nature Communications, 2013

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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."