Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.E2515*
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NOTCH1

NM_017617.5:p.E2515*

Associated Papers

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Notch activation leads to loss of myoepithelial differentiation and poor outcome in solid adenoid cystic carcinoma.

Zhang Y et al.

Oral Diseases, 2020

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Kimura S et al.

Cancer Science, 2019

30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

NOTCH1 mutational status in chronic lymphocytic leukaemia: clinical relevance of subclonal mutations and mutation types.

D'Agaro T et al.

British Journal of Haematology, 2018

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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."