NOTCH1 c.7283del ;(p.H2428Pfs*7)

Variant ID: 9-139390908-GT-G

NM_017617.3(NOTCH1):c.7283del;(p.H2428Pfs*7)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NOTCH1: H2428Pfs*7
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Blockade of Oncogenic NOTCH1 with the SERCA Inhibitor CAD204520 in T Cell Acute Lymphoblastic Leukemia.

Cell Chemical Biology
Marchesini, Matteo M; Gherli, Andrea A; Montanaro, Anna A; Patrizi, Laura L; Sorrentino, Claudia C; Pagliaro, Luca L; Rompietti, Chiara C; Kitara, Samuel S; Heit, Sabine S; Olesen, Claus E CE; Møller, Jesper V JV; Savi, Monia M; Bocchi, Leonardo L; Vilella, Rocchina R; Rizzi, Federica F; Baglione, Marilena M; Rastelli, Giorgia G; Loiacono, Caterina C; La Starza, Roberta R; Mecucci, Cristina C; Stegmaier, Kimberly K; Aversa, Franco F; Stilli, Donatella D; Lund Winther, Anne-Marie AM; Sportoletti, Paolo P; Bublitz, Maike M; Dalby-Brown, William W; Roti, Giovanni G
Publication Date: 2020-06-18

Variant appearance in text: NOTCH1: H2428Pfs*7
PubMed Link: 32386594
Variant Present in the following documents:
  • Main text
View BVdb publication page