NOTCH1 c.7555C>T ;(p.Q2519*)

Variant ID: 9-139390636-G-A

NM_017617.3(NOTCH1):c.7555C>T;(p.Q2519*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: Q2519*
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica
Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V
Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: Q2519*
PubMed Link: 33121237
Variant Present in the following documents:
  • 2020_261891_POZZO_SUPPL.pdf
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: Q2519*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
  • fonc-08-00229.pdf
View BVdb publication page



Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: NOTCH1: Q2519*
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.xlsx, sheet 1
View BVdb publication page