Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R353C
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NOTCH1

NM_017617.5:p.R353C

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.

Thomas QD et al.

Cancer, 2025

40297960 (PubMed )
Supplement: CNCR-131-e35882-s001.xlsx › Sup_Table_4

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

Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.

Liu G et al.

Iscience, 2023

Somatic mutations in facial skin from countries of contrasting skin cancer risk.

King C et al.

Nature Genetics, 2023

37537257 (PubMed )
Supplement: 41588_2023_1468_MOESM3_ESM.xlsx › Supp_Table_1

Mutational Landscape of Normal Human Skin: Clues to Understanding Early-Stage Carcinogenesis in Keratinocyte Neoplasia.

Kim YS et al.

The Journal of Investigative Dermatology, 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_10

Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.

Liu TY et al.

Diagnostics (basel, Switzerland), 2022

Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.

Erkizan HV et al.

Scientific Reports, 2021

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

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

Notch1 Deficiency Induces Tumor Cell Accumulation Inside the Bronchiolar Lumen and Increases TAZ Expression in an Autochthonous Kras LSL-G12V Driven Lung Cancer Mouse Model.

Meder L et al.

Pathology Oncology Research : Por, 2021

34257546 (PubMed )
Supplement: DataSheet1.PDF

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.s002.xlsx › TCGA-HNSC

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ et al.

Circulation Research, 2019

Loss of Notch1 predisposes oro-esophageal epithelium to tumorigenesis.

Sawangarun W et al.

Experimental Cell Research, 2018

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Inman GJ et al.

Nature Communications, 2018

30202019 (PubMed )
Supplement: 41467_2018_6027_MOESM13_ESM.xlsx › Supplementary_Data_11

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

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Chen TW et al.

Nature Communications, 2017

28878238 (PubMed )
Supplement: 41467_2017_493_MOESM5_ESM.xlsx › CCP_MAF_TS6

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Aihara K et al.

Acta Neuropathologica Communications, 2017

28270234 (PubMed )
Supplement: 40478_2017_422_MOESM1_ESM.xlsx › 3_Mutations

Comprehensive Genomic Profiling of Advanced Penile Carcinoma Suggests a High Frequency of Clinically Relevant Genomic Alterations.

Ali SM et al.

The Oncologist, 2016

Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

Zhang L et al.

American Journal of Human Genetics, 2015

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

Wang NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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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."