NOTCH1 c.3880G>T ;(p.E1294*)

Variant ID: 9-139401189-C-A

NM_017617.3(NOTCH1):c.3880G>T;(p.E1294*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: NOTCH1: 3880G>T; E1294*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: NOTCH1: 3880G>T; E1294*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: E1294*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NOTCH1: 3880G>T; E1294*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G
Publication Date: 2020-02

Variant appearance in text: NOTCH1: 3880G>T; E1294*
PubMed Link: 31629061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Novel insight into mutational landscape of head and neck squamous cell carcinoma.

Plos One
Gaykalova, Daria A DA; Mambo, Elizabeth E; Choudhary, Ashish A; Houghton, Jeffery J; Buddavarapu, Kalyan K; Sanford, Tiffany T; Darden, Will W; Adai, Alex A; Hadd, Andrew A; Latham, Gary G; Danilova, Ludmila V LV; Bishop, Justin J; Li, Ryan J RJ; Westra, William H WH; Hennessey, Patrick P; Koch, Wayne M WM; Ochs, Michael F MF; Califano, Joseph A JA; Sun, Wenyue W
Publication Date: 2014

Variant appearance in text: NOTCH1: E1294*
PubMed Link: 24667986
Variant Present in the following documents:
  • Main text
  • pone.0093102.pdf
View BVdb publication page



Activation of the NOTCH pathway in head and neck cancer.

Cancer Research
Sun, Wenyue W; Gaykalova, Daria A DA; Ochs, Michael F MF; Mambo, Elizabeth E; Arnaoutakis, Demetri D; Liu, Yan Y; Loyo, Myriam M; Agrawal, Nishant N; Howard, Jason J; Li, Ryan R; Ahn, Sun S; Fertig, Elana E; Sidransky, David D; Houghton, Jeffery J; Buddavarapu, Kalyan K; Sanford, Tiffany T; Choudhary, Ashish A; Darden, Will W; Adai, Alex A; Latham, Gary G; Bishop, Justin J; Sharma, Rajni R; Westra, William H WH; Hennessey, Patrick P; Chung, Christine H CH; Califano, Joseph A JA
Publication Date: 2014-02-15

Variant appearance in text: NOTCH1: E1294*
PubMed Link: 24351288
Variant Present in the following documents:
  • Main text
View BVdb publication page