Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.A21T
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NOTCH2

NM_024408.4:p.A21T

Associated Papers

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.

Jeong N et al.

Npj Genomic Medicine, 2022

35853873 (PubMed )
Supplement: 41525_2022_313_MOESM3_ESM.xlsx › Supplementary_Data_2e

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM1_ESM.pdf

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM22_ESM.xlsx › Tabelle3

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

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Liu X et al.

Npj Precision Oncology, 2021

34007008 (PubMed )
Supplement: 41698_2021_180_MOESM3_ESM.xlsx › Sheet1

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

Schindler EA et al.

American Journal of Medical Genetics. Part A, 2021

Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Scholl SM et al.

Ebiomedicine, 2020

33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma

Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Shi MJ et al.

Genome Medicine, 2020

32988402 (PubMed )
Supplement: 13073_2020_781_MOESM1_ESM.xlsx › 130_hotspot_mutation_in_BCa

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia D et al.

Scientific Reports, 2019

31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_7

Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer.

Saffari PS et al.

Oncogenesis, 2019

30741938 (PubMed )
Supplement: 41389_2019_119_MOESM2_ESM.xlsx › Table_S3

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Kim YH et al.

Plos One, 2019

31513681 (PubMed )
Supplement: pone.0222535.s004.xlsx › Sheet1

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

30286143 (PubMed )
Supplement: pone.0205022.s006.xlsx › Sheet1

Cigarette smoke enhances initiation and progression of lung cancer by mutating Notch1/2 and dysregulating downstream signaling molecules.

Li W et al.

Oncotarget, 2017

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5a

Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.

Rozenblum E et al.

Plos One, 2017

28787462 (PubMed )
Supplement: pone.0182610.s001.xlsx › H1-Ea-La_mut

Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.

Borad MJ et al.

Scientific Reports, 2016

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3

Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Patil V et al.

Oncotarget, 2015

26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations

Uncovering the genomic heterogeneity of multifocal breast cancer.

Desmedt C et al.

The Journal of Pathology, 2015

25850943 (PubMed )
Supplement: path0236-0457-sd9.xlsx › Table_S4

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s006.xlsx › Table_S6

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4
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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."