NOTCH1 c.4689G>T ;(p.E1563D)

Variant ID: 9-139399454-C-A

NM_017617.3(NOTCH1):c.4689G>T;(p.E1563D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: NOTCH1: 4689G>T; E1563D
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: NOTCH1: 4689G>T; E1563D
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations.

The American Journal Of Pathology
Guo, Belinda B BB; Allcock, Richard J RJ; Mirzai, Bob B; Malherbe, Jacques A JA; Choudry, Fizzah A FA; Frontini, Mattia M; Chuah, Hun H; Liang, James J; Kavanagh, Simon E SE; Howman, Rebecca R; Ouwehand, Willem H WH; Fuller, Kathryn A KA; Erber, Wendy N WN
Publication Date: 2017-07

Variant appearance in text: NOTCH1: Glu1563Asp
PubMed Link: 28502479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: NOTCH1: E1563D
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s10.xls, sheet 1
View BVdb publication page