NOTCH1 c.868C>T ;(p.Q290*)

Variant ID: 9-139413274-G-A

NM_017617.3(NOTCH1):c.868C>T;(p.Q290*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Patterns of Response to Immune Checkpoint Inhibitors in Association with Genomic and Clinical Features in Patients with Head and Neck Squamous Cell Carcinoma (HNSCC).

Cancers
Economopoulou, Panagiota P; Anastasiou, Maria M; Papaxoinis, George G; Spathas, Nikolaos N; Spathis, Aris A; Oikonomopoulos, Nikolaos N; Kotsantis, Ioannis I; Tsavaris, Onoufrios O; Gkotzamanidou, Maria M; Gavrielatou, Niki N; Vagia, Elena E; Kyrodimos, Efthymios E; Gagari, Eleni E; Giotakis, Evangelos E; Delides, Alexander A; Psyrri, Amanda A
Publication Date: 2021-01-14

Variant appearance in text: NOTCH1: Q290*
PubMed Link: 33466719
Variant Present in the following documents:
  • Main text
  • cancers-13-00286.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NOTCH1: Q290*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.

Science (New York, N.Y.)
Agrawal, Nishant N; Frederick, Mitchell J MJ; Pickering, Curtis R CR; Bettegowda, Chetan C; Chang, Kyle K; Li, Ryan J RJ; Fakhry, Carole C; Xie, Tong-Xin TX; Zhang, Jiexin J; Wang, Jing J; Zhang, Nianxiang N; El-Naggar, Adel K AK; Jasser, Samar A SA; Weinstein, John N JN; Treviño, Lisa L; Drummond, Jennifer A JA; Muzny, Donna M DM; Wu, Yuanqing Y; Wood, Laura D LD; Hruban, Ralph H RH; Westra, William H WH; Koch, Wayne M WM; Califano, Joseph A JA; Gibbs, Richard A RA; Sidransky, David D; Vogelstein, Bert B; Velculescu, Victor E VE; Papadopoulos, Nickolas N; Wheeler, David A DA; Kinzler, Kenneth W KW; Myers, Jeffrey N JN
Publication Date: 2011-08-26

Variant appearance in text: NOTCH1: Q290X
PubMed Link: 21798897
Variant Present in the following documents:
  • Main text
View BVdb publication page