Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.P1450R
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TSC2

NM_000548.5:p.P1450R

Associated Papers

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

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

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.

Zhu QY et al.

Journal of Cancer Research and Clinical Oncology, 2023

Resistance to anti-HER2 therapy associated with the TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) is reversed by CDK4/6 inhibitor in HER2-positive breast cancer.

Yang Z et al.

Npj Breast Cancer, 2023

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

Yepes S et al.

Cancers, 2021

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S3

PD-L1 Expressing Recurrent Clear Cell Carcinoma of the Vulva with Durable Partial Response to Pembrolizumab: A Case Report.

Sachdeva M et al.

Oncotargets and Therapy, 2021

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.

Choy KW et al.

Frontiers in Genetics, 2019

31475041 (PubMed )
Supplement: DataSheet_1.docx

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

The Clinical Use of Genomic Profiling to Distinguish Intrapulmonary Metastases From Synchronous Primaries in Non-Small-Cell Lung Cancer: A Mini-Review.

Klempner SJ et al.

Clinical Lung Cancer, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH et al.

Human Mutation, 2004

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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."