Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.L1593P
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NOTCH1

NM_017617.5:p.L1593P

Associated Papers

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.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

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s005.xlsx › Hoja1

Detection and Interpretation of Clonal Hematopoiesis Variants during Routine Solid Tumor Next-Generation Sequencing: A Single-Institution Experience.

Menon A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S2

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

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

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia.

Albertí-Servera L et al.

Blood, 2021

Capture-based Next-Generation Sequencing Improves the Identification of Immunoglobulin/T-Cell Receptor Clonal Markers and Gene Mutations in Adult Acute Lymphoblastic Leukemia Patients Lacking Molecular Probes.

Cavagna R et al.

Cancers, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.

Kampen KR et al.

Leukemia, 2019

29930300 (PubMed )
Supplement: NIHMS77878-supplement-Supplementary_information.docx

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

Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Mondejar R et al.

Plos One, 2017

28505169 (PubMed )
Supplement: pone.0177524.s005.xlsx › Supplementary_table_5

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Li Y et al.

Plos Medicine, 2016

27997540 (PubMed )
Supplement: pmed.1002200.s012.xlsx › 401_mutations

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Spinella JF et al.

Oncotarget, 2016

27602765 (PubMed )
Supplement: oncotarget-07-65485-s004.xlsx › Sheet1

Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier case.

Knoechel B et al.

Cold Spring Harbor Molecular Case Studies, 2015

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen

Mutations increased overexpression of Notch1 in T-cell acute lymphoblastic leukemia.

Lin C et al.

Cancer Cell International, 2012

High accuracy mutation detection in leukemia on a selected panel of cancer genes.

Kalender Atak Z et al.

Plos One, 2012

22675565 (PubMed )
Supplement: pone.0038463.s007.xlsx › TableS3

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma.

Park MJ et al.

British Journal of Haematology, 2009

NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis.

Zhu YM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

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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."