NOTCH1 c.6784G>A ;(p.G2262S)

Variant ID: 9-139391407-C-T

NM_017617.3(NOTCH1):c.6784G>A;(p.G2262S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Wilms tumor mutational subclasses converge to drive CCND2 overexpression.

Medrxiv : The Preprint Server For Health Sciences
Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS
Publication Date: 2023-02-02

Variant appearance in text: NOTCH1: 6784G>A; Gly2262Ser
PubMed Link: 36778325
Variant Present in the following documents:
  • media-4.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: G2262S
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities.

Brain Pathology (Zurich, Switzerland)
Wood, Matthew D MD; Tihan, Tarik T; Perry, Arie A; Chacko, Geeta G; Turner, Clinton C; Pu, Cunfeng C; Payne, Christopher C; Yu, Alexander A; Bannykh, Serguei I SI; Solomon, David A DA
Publication Date: 2018-03

Variant appearance in text: NOTCH1: G2262S
PubMed Link: 28960623
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.

Nature Communications
Rakheja, Dinesh D; Chen, Kenneth S KS; Liu, Yangjian Y; Shukla, Abhay A AA; Schmid, Vanessa V; Chang, Tsung-Cheng TC; Khokhar, Shama S; Wickiser, Jonathan E JE; Karandikar, Nitin J NJ; Malter, James S JS; Mendell, Joshua T JT; Amatruda, James F JF
Publication Date: 2014-09-05

Variant appearance in text: NOTCH1: G2262S
PubMed Link: 25190313
Variant Present in the following documents:
  • ncomms5802-s3.xlsx, sheet 1
  • ncomms5802-s4.xlsx, sheet 1
View BVdb publication page