NOTCH1 c.1161C>G ;(p.C387W)

Variant ID: 9-139412683-G-C

NM_017617.3(NOTCH1):c.1161C>G;(p.C387W)

This variant was identified in 2 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: 1161C>G; C387W
PubMed Link: 36068285
Variant Present in the following documents:
  • 41698_2022_306_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Whole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma.

Investigative Ophthalmology & Visual Science
Sant, David W DW; Tao, Wensi W; Field, Matthew G MG; Pelaez, Daniel D; Jin, Ke K; Capobianco, Anthony A; Dubovy, Sander R SR; Tse, David T DT; Wang, Gaofeng G
Publication Date: 2017-05-01

Variant appearance in text: NOTCH1: C387W
PubMed Link: 28820917
Variant Present in the following documents:
  • Main text
  • i1552-5783-58-6-BIO240.pdf
View BVdb publication page