NOTCH1 c.4822C>A ;(p.R1608S)

Variant ID: 9-139399321-G-T

NM_017617.3(NOTCH1):c.4822C>A;(p.R1608S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A patient tumor transplant model of squamous cell cancer identifies PI3K inhibitors as candidate therapeutics in defined molecular bins.

Molecular Oncology
Keysar, Stephen B SB; Astling, David P DP; Anderson, Ryan T RT; Vogler, Brian W BW; Bowles, Daniel W DW; Morton, J Jason JJ; Paylor, Jeramiah J JJ; Glogowska, Magdalena J MJ; Le, Phuong N PN; Eagles-Soukup, Justin R JR; Kako, Severine L SL; Takimoto, Sarah M SM; Sehrt, Daniel B DB; Umpierrez, Adrian A; Pittman, Morgan A MA; Macfadden, Sarah M SM; Helber, Ryan M RM; Peterson, Scott S; Hausman, Diana F DF; Said, Sherif S; Leem, Ted H TH; Goddard, Julie A JA; Arcaroli, John J JJ; Messersmith, Wells A WA; Robinson, William A WA; Hirsch, Fred R FR; Varella-Garcia, Marileila M; Raben, David D; Wang, Xiao-Jing XJ; Song, John I JI; Tan, Aik-Choon AC; Jimeno, Antonio A
Publication Date: 2013-08

Variant appearance in text: NOTCH1: R1608S
PubMed Link: 23607916
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: NOTCH1: R1608S
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page