NOTCH1 c.382_384delinsTGA ;(p.R128*)

Variant ID: 9-139418188-GCG-TCA

NM_017617.3(NOTCH1):c.382_384delinsTGA;(p.R128*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NOTCH1: R128*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Allogeneic Hematopoietic Stem Cell Transplantation with Myeloablative Conditioning Is Associated with Favorable Outcomes in Mixed Phenotype Acute Leukemia.

Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation
Getta, Bartlomiej M BM; Roshal, Mikhail M; Zheng, Junting J; Park, Jae H JH; Stein, Eytan M EM; Levine, Ross R; Papadopoulos, Esperanza B EB; Jakubowski, Ann A AA; Kernan, Nancy A NA; Steinherz, Peter P; O'Reilly, Richard J RJ; Perales, Miguel-Angel MA; Giralt, Sergio A SA; Tallman, Martin S MS; Shaffer, Brian C BC
Publication Date: 2017-11

Variant appearance in text: NOTCH1: R128*
PubMed Link: 28694182
Variant Present in the following documents:
  • Main text
View BVdb publication page