NOTCH1 c.6050C>A ;(p.S2017*)

Variant ID: 9-139393596-G-T

NM_017617.3(NOTCH1):c.6050C>A;(p.S2017*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology
Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y
Publication Date: 2021

Variant appearance in text: NOTCH1: 6050C>A; S2017*
PubMed Link: 34195081
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



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: S2017*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: NOTCH1: S2017*
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 20
View BVdb publication page