NOTCH1 c.1245G>T ;(p.E415D)

Variant ID: 9-139412599-C-A

NM_017617.3(NOTCH1):c.1245G>T;(p.E415D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


IER5, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation.

Elife
Pan, Li L; Lemieux, Madeleine E ME; Thomas, Tom T; Rogers, Julia M JM; Lipper, Colin H CH; Lee, Winston W; Johnson, Carl C; Sholl, Lynette M LM; South, Andrew P AP; Marto, Jarrod A JA; Adelmant, Guillaume O GO; Blacklow, Stephen C SC; Aster, Jon C JC
Publication Date: 2020-09-16

Variant appearance in text: NOTCH1: 1245G>T; E415D
PubMed Link: 32936072
Variant Present in the following documents:
  • Main text
  • elife-58081.pdf
View BVdb publication page



Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine
Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H
Publication Date: 2016-08

Variant appearance in text: NOTCH1: E415D
PubMed Link: 27228302
Variant Present in the following documents:
  • Main text
  • CAM4-5-2048.pdf
View BVdb publication page