Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.T349P
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NOTCH1

NM_017617.5:p.T349P

Associated Papers

Establishment and characterization of a novel patient-derived TP63-rearranged anaplastic large-cell lymphoma model PTCL-S1.

Chai KXY et al.

Human Cell, 2025

Comprehensive genomic analysis reveals molecular heterogeneity in pediatric ALK-positive anaplastic large cell lymphoma.

Shaw TI et al.

Leukemia, 2025

Neurogenic locus notch homolog protein 1 (NOTCH 1) SNP informatics coupled with intrinsically disordered regions and post-translational modifications reveals the complex structural crosstalk of Lung Adenocarcinoma (LUAD).

John P et al.

Frontiers in Bioinformatics, 2025

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Cancer-associated Notch receptor variants lead to O-fucosylation defects that deregulate Notch signaling.

Pennarubia F et al.

The Journal of Biological Chemistry, 2022

36265581 (PubMed )
Supplement: mmc14.xlsx › Table_S15

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Eng ZH et al.

Frontiers in Endocrinology, 2022

36686473 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_2

Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target.

Larose H et al.

Haematologica, 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.s003.xlsx › COSMICv87_HNSCC

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

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

Whole-exome sequencing reveals acquisition of mutations leading to the onset of donor cell leukemia after hematopoietic transplantation: a model of leukemogenesis.

Suárez-González J et al.

Leukemia, 2018

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 › Patient_2_late_met_1

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST7

The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.

Harms PW et al.

Cancer Research, 2015

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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."