Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.Q2285*
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NOTCH2

NM_024408.4:p.Q2285*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Deshotels L et al.

International Journal of Molecular Sciences, 2023

Histiocytic Sarcoma With CCND1 Gene Rearrangement Clonally Related and Transdifferentiated From Mantle Cell Lymphoma.

Kumar J et al.

American Journal of Clinical Pathology, 2022

Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.

Aida N et al.

International Journal of Molecular Sciences, 2022

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM22_ESM.xlsx › Tabelle3

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S5

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.

Moia R et al.

British Journal of Haematology, 2021

34291829 (PubMed )
Supplement: BJH-195-108-s003.xlsx › Table_S2

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

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 › .

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Gu JM et al.

Joint Bone Spine, 2013

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

Narumi Y et al.

American Journal of Medical Genetics. Part A, 2013

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.

Stathopoulos IP et al.

Bone, 2013

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

Kiel MJ et al.

The Journal of Experimental Medicine, 2012

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Gray MJ et al.

European Journal of Human Genetics : Ejhg, 2012

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B et al.

Nature Genetics, 2011

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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."