NOTCH1 c.1269C>G ;(p.C423W)

Variant ID: 9-139412376-G-C

NM_017617.3(NOTCH1):c.1269C>G;(p.C423W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Npj Precision Oncology
Bonner, Erin R ER; Harrington, Robin R; Eze, Augustine A; Bornhorst, Miriam M; Kline, Cassie N CN; Gordish-Dressman, Heather H; Dawood, Adam A; Das, Biswajit B; Chen, Li L; Pauly, Rini R; Williams, P Mickey PM; Karlovich, Chris C; Peach, Amanda A; Howell, D'andra D; Doroshow, James J; Kilburn, Lindsay L; Packer, Roger J RJ; Mueller, Sabine S; Nazarian, Javad J
Publication Date: 2022-09-06

Variant appearance in text: NOTCH1: 1269C>G; C423W
PubMed Link: 36068285
Variant Present in the following documents:
  • 41698_2022_306_MOESM3_ESM.xlsx, sheet 3
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: 1269C>G; C423W
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Frequency and distribution of Notch mutations in tumor cell lines.

Bmc Cancer
Mutvei, Anders Peter AP; Fredlund, Erik E; Lendahl, Urban U
Publication Date: 2015-04-25

Variant appearance in text: NOTCH1: 1269C>G; C423W
PubMed Link: 25907971
Variant Present in the following documents:
  • 12885_2015_1278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page