NOTCH1 c.370G>T ;(p.E124*)

Variant ID: 9-139418202-C-A

NM_017617.3(NOTCH1):c.370G>T;(p.E124*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications
Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J
Publication Date: 2020-09-28

Variant appearance in text: NOTCH1: 370G>T; Glu124Ter
PubMed Link: 32985499
Variant Present in the following documents:
  • 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: NOTCH1: E124*
PubMed Link: 24662767
Variant Present in the following documents:
  • Main text
  • emss-57574.pdf
View BVdb publication page