Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.E424K
Back to variants list

NOTCH1

NM_017617.5:p.E424K

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Integrating artificial intelligence-driven digital pathology and genomics to establish patient-derived organoids as new approach methodologies for drug response in head and neck cancer.

Doerfler R et al.

Oral Oncology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_36-120d_TISF

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

Genomic characterization and risk stratification of esophageal squamous dysplasia.

Min Q et al.

Medical Review (2021), 2024

38919397 (PubMed )
Supplement: j_mr-2024-0008_suppl_010.pdf

Whole exome sequencing uncovers HRAS mutations as potential mediators of resistance to metronomic chemotherapy.

Sambath J et al.

Gene, 2024

NOTCH1 and PIK3CA mutation are related to HPV-associated vulvar squamous cell carcinoma.

Choschzick M et al.

Pathology, Research and Practice, 2023

Proliferating Pilar Tumors Are Characterized by Recurrent 15q, 6q, and 6p22.2 Alterations.

Fischer GM et al.

The American Journal of Dermatopathology, 2023

Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.

Abby E et al.

Nature Genetics, 2023

36658434 (PubMed )
Supplement: 41588_2022_1280_MOESM4_ESM.xlsx › Sup_Table_2

Oral cancer prediction by noninvasive genetic screening.

Poell JB et al.

International Journal of Cancer, 2023

36069231 (PubMed )
Supplement: IJC-152-227-s001.pdf

Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Abdulla FR et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2022

34977845 (PubMed )
Supplement: mmc1.xlsx › Table_1

Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.

Ak M et al.

Genes, 2021

34202213 (PubMed )
Supplement: genes-12-00974-s001.zip › Supplemental_Table_S2_F1CDx_gene_alteration.xlsx › Tabelle1

TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Brown NA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33203919 (PubMed )
Supplement: NIHMS1641219-supplement-1.xlsx › Supplemental_Table_1

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Wei L et al.

Science Advances, 2021

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s005.xlsx › Sheet1

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS3

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

Notch1 mutations are drivers of oral tumorigenesis.

Izumchenko E et al.

Cancer Prevention Research (philadelphia, Pa.), 2015

Common and complex Notch1 mutations in Chinese oral squamous cell carcinoma.

Song X et al.

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."