NOTCH1 c.2352C>T ;(p.S784=)

Variant ID: 9-139407845-G-A

NM_017617.3(NOTCH1):c.2352C>T;(p.S784=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: NOTCH1: S784S
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Frontiers In Physiology
Gillis, Elisabeth E; Kumar, Ajay A AA; Luyckx, Ilse I; Preuss, Christoph C; Cannaerts, Elyssa E; van de Beek, Gerarda G; Wieschendorf, Björn B; Alaerts, Maaike M; Bolar, Nikhita N; Vandeweyer, Geert G; Meester, Josephina J; Wünnemann, Florian F; Gould, Russell A RA; Zhurayev, Rustam R; Zerbino, Dmytro D; Mohamed, Salah A SA; Mital, Seema S; Mertens, Luc L; Björck, Hanna M HM; Franco-Cereceda, Anders A; McCallion, Andrew S AS; Van Laer, Lut L; Verhagen, Judith M A JMA; van de Laar, Ingrid M B H IMBH; Wessels, Marja W MW; Messas, Emmanuel E; Goudot, Guillaume G; Nemcikova, Michaela M; Krebsova, Alice A; Kempers, Marlies M; Salemink, Simone S; Duijnhouwer, Toon T; Jeunemaitre, Xavier X; Albuisson, Juliette J; Eriksson, Per P; Andelfinger, Gregor G; Dietz, Harry C HC; Verstraeten, Aline A; Loeys, Bart L BL; ,
Publication Date: 2017

Variant appearance in text: NOTCH1: S784S
PubMed Link: 28659821
Variant Present in the following documents:
  • Main text
  • fphys-08-00400.pdf
View BVdb publication page