Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.Q2503*
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NOTCH1

NM_017617.5:p.Q2503*

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

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S6

SF3B1-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Pozzo F et al.

Haematologica, 2021

33121237 (PubMed )
Supplement: 2020_261891_POZZO_SUPPL.pdf

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

First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia.

Seol CA et al.

Annals of Laboratory Medicine, 2020

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

Diffuse Staining for Activated NOTCH1 Correlates With NOTCH1 Mutation Status and Is Associated With Worse Outcome in Adenoid Cystic Carcinoma.

Sajed DP et al.

The American Journal of Surgical Pathology, 2017

Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

Hurtado AM et al.

Blood Cancer Journal, 2015

26314984 (PubMed )
Supplement: bcj201565x1.xls › Hoja1

BMI1, the polycomb-group gene, is recurrently targeted by genomic rearrangements in progressive B-cell leukemia/lymphoma.

Rouhigharabaei L et al.

Genes, Chromosomes & Cancer, 2013

NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome.

Villamor N et al.

Leukemia, 2013

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

Quesada V et al.

Nature Genetics, 2011

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Puente XS et al.

Nature, 2011

The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Larson Gedman A et al.

Leukemia, 2009

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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."