NOTCH1 c.1581C>A ;(p.Y527*)

Variant ID: 9-139410521-G-T

NM_017617.3(NOTCH1):c.1581C>A;(p.Y527*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Oral cancer prediction by noninvasive genetic screening.

International Journal Of Cancer
Poell, Jos B JB; Wils, Leon J LJ; Brink, Arjen A; Dietrich, Ralf R; Krieg, Christine C; Velleuer, Eunike E; Evren, Ilkay I; Brouns, Elisabeth R ER; de Visscher, Jan G JG; Bloemena, Elisabeth E; Ylstra, Bauke B; Brakenhoff, Ruud H RH
Publication Date: 2023-01-15

Variant appearance in text: NOTCH1: Tyr527*
PubMed Link: 36069231
Variant Present in the following documents:
  • IJC-152-227-s001.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NOTCH1: Y527*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Augert, Arnaud A; Zhang, Qing Q; Bates, Breanna B; Cui, Min M; Wang, Xiaofei X; Wildey, Gary G; Dowlati, Afshin A; MacPherson, David D
Publication Date: 2017-04

Variant appearance in text: NOTCH1: Y527X
PubMed Link: 28007623
Variant Present in the following documents:
  • Main text
View BVdb publication page