NOTCH1 c.*371A>G

Variant ID: 9-139390152-T-C

NM_017617.3(NOTCH1):c.*371A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


<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: *7668+378A>G
PubMed Link: 33121237
Variant Present in the following documents:
  • 2020_261891_POZZO_SUPPL.pdf
View BVdb publication page



Mutations in the 3' untranslated region of NOTCH1 are associated with low CD20 expression levels chronic lymphocytic leukemia.

Haematologica
Bittolo, Tamara T; Pozzo, Federico F; Bomben, Riccardo R; D'Agaro, Tiziana T; Bravin, Vanessa V; Bulian, Pietro P; Rossi, Francesca Maria FM; Zucchetto, Antonella A; Degan, Massimo M; Macor, Paolo P; D'Arena, Giovanni G; Chiarenza, Annalisa A; Zaja, Francesco F; Pozzato, Gabriele G; Di Raimondo, Francesco F; Rossi, Davide D; Gaidano, Gianluca G; Del Poeta, Giovanni G; Gattei, Valter V; Dal Bo, Michele M
Publication Date: 2017-08

Variant appearance in text: NOTCH1: *7668+378A>G
PubMed Link: 28550186
Variant Present in the following documents:
  • Main text
View BVdb publication page