NOTCH1 c.1828C>T ;(p.Q610*)

Variant ID: 9-139410010-G-A

NM_017617.3(NOTCH1):c.1828C>T;(p.Q610*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: Q610*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: NOTCH1: Q610*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature
Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, IƱigo I; Janes, Sam M SM; Campbell, Peter J PJ
Publication Date: 2020-02

Variant appearance in text: NOTCH1: Q610X
PubMed Link: 31996850
Variant Present in the following documents:
  • EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5
View BVdb publication page



Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Nature Communications
Findlay, John M JM; Castro-Giner, Francesc F; Makino, Seiko S; Rayner, Emily E; Kartsonaki, Christiana C; Cross, William W; Kovac, Michal M; Ulahannan, Danny D; Palles, Claire C; Gillies, Richard S RS; MacGregor, Thomas P TP; Church, David D; Maynard, Nicholas D ND; Buffa, Francesca F; Cazier, Jean-Baptiste JB; Graham, Trevor A TA; Wang, Lai-Mun LM; Sharma, Ricky A RA; Middleton, Mark M; Tomlinson, Ian I
Publication Date: 2016-04-05

Variant appearance in text: NOTCH1: Gln610X
PubMed Link: 27045317
Variant Present in the following documents:
  • ncomms11111-s1.pdf
View BVdb publication page



Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Nicholas J NJ; Sanborn, Zachary Z; Arnett, Kelly L KL; Bayston, Laura J LJ; Liao, Wilson W; Proby, Charlotte M CM; Leigh, Irene M IM; Collisson, Eric A EA; Gordon, Patricia B PB; Jakkula, Lakshmi L; Pennypacker, Sally S; Zou, Yong Y; Sharma, Mimansa M; North, Jeffrey P JP; Vemula, Swapna S SS; Mauro, Theodora M TM; Neuhaus, Isaac M IM; Leboit, Philip E PE; Hur, Joe S JS; Park, Kyunghee K; Huh, Nam N; Kwok, Pui-Yan PY; Arron, Sarah T ST; Massion, Pierre P PP; Bale, Allen E AE; Haussler, David D; Cleaver, James E JE; Gray, Joe W JW; Spellman, Paul T PT; South, Andrew P AP; Aster, Jon C JC; Blacklow, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2011-10-25

Variant appearance in text: NOTCH1: Q610*
PubMed Link: 22006338
Variant Present in the following documents:
  • Main text
View BVdb publication page