NOTCH1 c.7192C>T ;(p.Q2398*)

Variant ID: 9-139390999-G-A

NM_017617.3(NOTCH1):c.7192C>T;(p.Q2398*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics
Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y
Publication Date: 2023-02-04

Variant appearance in text: NOTCH1: 7192C>T; Q2398X
PubMed Link: 36739388
Variant Present in the following documents:
  • 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: NOTCH1: Q2398*
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



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

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: NOTCH1: 7192C>T; Q2398X
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: Q2398*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: NOTCH1: Q2398*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: NOTCH1: Q2398X
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P
Publication Date: 2018

Variant appearance in text: NOTCH1: Q2398*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
  • fonc-08-00229.pdf
View BVdb publication page