Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.Q2487*
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NOTCH1

NM_017617.5:p.Q2487*

Associated Papers

Generative prediction of causal gene sets responsible for complex traits.

Kuznets-Speck B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40504147 (PubMed )
Supplement: pnas.2415071122.sd01.xlsx › Metadata_Table

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

NOTCH Signaling in Mantle Cell Lymphoma: Biological and Clinical Implications.

Deshotels L et al.

International Journal of Molecular Sciences, 2023

Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY.

Mansouri L et al.

Leukemia, 2023

36566271 (PubMed )
Supplement: 41375_2022_1802_MOESM2_ESM.xlsx › Supplemental_Table_S4

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

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

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

NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Rosati E et al.

Frontiers in Oncology, 2018

An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Rigolin GM et al.

Oncotarget, 2017

28427204 (PubMed )
Supplement: oncotarget-08-28008-s003.xlsx › Foglio1

Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Rigolin GM et al.

Journal of Hematology & Oncology, 2016

27633522 (PubMed )
Supplement: 13045_2016_320_MOESM1_ESM.xlsx › Foglio1

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

Acquired initiating mutations in early hematopoietic cells of CLL patients.

Damm F et al.

Cancer Discovery, 2014

24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL11

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS2.xlsx › TableS2

Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma.

Kridel R et al.

Blood, 2012

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