Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.L1600P
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NOTCH1

NM_017617.5:p.L1600P

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

Comparison of Sequencing-by-Synthesis and Avidity Base Chemistry Next-Generation Sequencing Platforms in Identifying Somatic Variants of Hematological Malignancies.

Lim MH et al.

The Journal of Applied Laboratory Medicine, 2025

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-s007.xlsx › SNV

A pilot study of on-site evaluation as external quality assessment for ISO 15189 accreditation of laboratories performing next-generation sequencing oncology tests.

Ravzanaadii M et al.

Journal of Clinical Laboratory Analysis, 2023

Competitive SNP-LAMP probes for rapid and robust single-nucleotide polymorphism detection.

Hyman LB et al.

Cell Reports Methods, 2022

Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma.

Sudha P et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35522533 (PubMed )
Supplement: ccr-21-3695_supplementary_table_ts4_suppts4.pdf

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

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Tran TH et al.

Blood Advances, 2022

34933343 (PubMed )
Supplement: advancesADV2021005634-suppl1.xlsx › S3_Mutation_details

Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Tan J et al.

Bmc Medical Genomics, 2022

35033063 (PubMed )
Supplement: 12920_2021_1145_MOESM3_ESM.pdf

Analytical and clinical validation of an amplicon-based next generation sequencing assay for ultrasensitive detection of circulating tumor DNA.

Poh J et al.

Plos One, 2022

35486650 (PubMed )
Supplement: pone.0267389.s008.xlsx › S1_Table

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

PSEN1-selective gamma-secretase inhibition in combination with kinase or XPO-1 inhibitors effectively targets T cell acute lymphoblastic leukemia.

Govaerts I et al.

Journal of Hematology & Oncology, 2021

34167562 (PubMed )
Supplement: 13045_2021_1114_MOESM2_ESM.xlsx › Sheet1

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

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

Albertí-Servera L et al.

Blood, 2021

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Pillonel V et al.

Leukemia & Lymphoma, 2020

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table3

Landscape and function of multiple mutations within individual oncogenes.

Saito Y et al.

Nature, 2020

Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.

Keegan A et al.

Archives of Pathology & Laboratory Medicine, 2020

Preparation of the standard cell lines for reference mutations in cancer gene-panels by genome editing in HEK 293 T/17 cells.

Suzuki T et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2020

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

Safe targeting of T cell acute lymphoblastic leukemia by pathology-specific NOTCH inhibition.

Habets RA et al.

Science Translational Medicine, 2019

The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.

Kim J et al.

Nature Communications, 2019

Panel-based next-generation sequencing identifies prognostic and actionable genes in childhood acute lymphoblastic leukemia and is suitable for clinical sequencing.

Ishida H et al.

Annals of Hematology, 2019

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

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

Single-cell sequencing reveals the origin and the order of mutation acquisition in T-cell acute lymphoblastic leukemia.

De Bie J et al.

Leukemia, 2018

Mutant JAK3 phosphoproteomic profiling predicts synergism between JAK3 inhibitors and MEK/BCL2 inhibitors for the treatment of T-cell acute lymphoblastic leukemia.

Degryse S et al.

Leukemia, 2018

28852199 (PubMed )
Supplement: leu2017276x7.xlsx › Sheet1

Study of NOTCH1 and FBXW7 Mutations and Its Prognostic Significance in South Indian T-Cell Acute Lymphoblastic Leukemia.

Valliyammai N et al.

Journal of Pediatric Hematology/oncology, 2018

Towards standardization of next-generation sequencing of FFPE samples for clinical oncology: intrinsic obstacles and possible solutions.

Ivanov M et al.

Journal of Translational Medicine, 2017

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

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

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

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations

Integrated digital error suppression for improved detection of circulating tumor DNA.

Newman AM et al.

Nature Biotechnology, 2016

27018799 (PubMed )
Supplement: NIHMS764326-supplement-6.xlsx › SuppTable4_hotspot_variants

Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform.

Vanni I et al.

International Journal of Molecular Sciences, 2015

26633390 (PubMed )
Supplement: ijms-16-26129-s001.xls › Table_S2

Gene mutation profiles and prognostic implications in Korean patients with T-lymphoblastic leukemia.

Huh HJ et al.

Annals of Hematology, 2013

BCL11B, FLT3, NOTCH1 and FBXW7 mutation status in T-cell acute lymphoblastic leukemia patients.

Kraszewska MD et al.

Blood Cells, Molecules & Diseases, 2013

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
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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."