NOTCH1 c.1205C>A ;(p.S402*)

Variant ID: 9-139412639-G-T

NM_017617.3(NOTCH1):c.1205C>A;(p.S402*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: NOTCH1: S402*
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM8_ESM.xlsx, sheet 1
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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: 1205C>A; S402X
PubMed Link: 25633867
Variant Present in the following documents:
  • Main text
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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: S402X
PubMed Link: 21798897
Variant Present in the following documents:
  • Main text
View BVdb publication page