NOTCH1 c.2434G>T ;(p.G812W)

Variant ID: 9-139407506-C-A

NM_017617.3(NOTCH1):c.2434G>T;(p.G812W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cleaved NOTCH1 Expression Pattern in Head and Neck Squamous Cell Carcinoma Is Associated with NOTCH1 Mutation, HPV Status, and High-Risk Features.

Cancer Prevention Research (Philadelphia, Pa.)
Rettig, Eleni M EM; Chung, Christine H CH; Bishop, Justin A JA; Howard, Jason D JD; Sharma, Rajni R; Li, Ryan J RJ; Douville, Christopher C; Karchin, Rachel R; Izumchenko, Evgeny E; Sidransky, David D; Koch, Wayne W; Califano, Joseph J; Agrawal, Nishant N; Fakhry, Carole C
Publication Date: 2015-04

Variant appearance in text: NOTCH1: 2434G>T; G812W
PubMed Link: 25633867
Variant Present in the following documents:
  • Main text
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; TreviƱo, 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: G812W
PubMed Link: 21798897
Variant Present in the following documents:
  • Main text
View BVdb publication page