Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.D1698D
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NOTCH1

NM_017617.5:p.D1698D

Associated Papers

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.

Yu F et al.

Briefings in Bioinformatics, 2025

40982469 (PubMed )
Supplement: supplemental_materials_1_bbaf483.xlsx › Table_S5_

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.

Zaitsu S et al.

International Journal of Molecular Sciences, 2024

38928057 (PubMed )
Supplement: ijms-25-06351-s001.zip › ijms-3029491-supplementary.pdf

Genotype-to-phenotype mapping of somatic clonal mosaicism via single-cell co-capture of DNA mutations and mRNA transcripts.

Yuan DJ et al.

Biorxiv : the Preprint Server for Biology, 2024

38826366 (PubMed )
Supplement: media-1.xlsx › Supplementary_table_3

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.

Huang YT et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38424547 (PubMed )
Supplement: 13046_2024_2987_MOESM2_ESM.xlsx › Table_S1

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.

Hurník P et al.

Bmc Oral Health, 2023

37573343 (PubMed )
Supplement: 12903_2023_3259_MOESM1_ESM.xlsx › 202112658_AMEL_SNP_Table

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S3.xlsx › 1_Patient_4

Ghost cell odontogenic carcinoma arising in dentinogenic ghost cell tumor with next-generation sequencing cancer panel analysis: A case report.

Seki-Soda M et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2022

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XF101

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

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_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM et al.

International Journal of Molecular Sciences, 2021

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.

Luo X et al.

Frontiers in Genetics, 2020

32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes

NOTCH1 signaling in oral squamous cell carcinoma via a TEL2/SERPINE1 axis.

Salameti V et al.

Oncotarget, 2019

31827722 (PubMed )
Supplement: oncotarget-10-6791-s002.xlsx › Sanger_confirmation

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP

The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia.

Furness CL et al.

Leukemia, 2018

29556024 (PubMed )
Supplement: 41375_2018_46_MOESM1_ESM.docx

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Smetana J et al.

Molecular Cytogenetics, 2018

29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants

Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma.

Chan JYK et al.

F1000research, 2018

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

Li W et al.

Oncotarget, 2017

Novel dynamin 2 mutations in adult T-cell acute lymphoblastic leukemia.

Ge Z et al.

Oncology Letters, 2016

Co-existence of PHF6 and NOTCH1 mutations in adult T-cell acute lymphoblastic leukemia.

Li M et al.

Oncology Letters, 2016

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

NOTCH1 mutations are associated with favourable long-term prognosis in paediatric T-cell acute lymphoblastic leukaemia: a retrospective study of patients treated on BCH-2003 and CCLG-2008 protocol in China.

Gao C et al.

British Journal of Haematology, 2014

Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

Kent KC et al.

The Journal of Thoracic and Cardiovascular Surgery, 2013

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

Foffa I et al.

Bmc Medical Genetics, 2013

Impact of NOTCH1/FBXW7 mutations on outcome in pediatric T-cell acute lymphoblastic leukemia patients treated on the MRC UKALL 2003 trial.

Jenkinson S et al.

Leukemia, 2013

Prognostic significance of NOTCH1 and FBXW7 mutations in pediatric T-ALL.

Erbilgin Y et al.

Disease Markers, 2010

The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Larson Gedman A et al.

Leukemia, 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."