NOTCH1 c.1406A>G ;(p.D469G)

Variant ID: 9-139412239-T-C

NM_017617.3(NOTCH1):c.1406A>G;(p.D469G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


IER5, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation.

Elife
Pan, Li L; Lemieux, Madeleine E ME; Thomas, Tom T; Rogers, Julia M JM; Lipper, Colin H CH; Lee, Winston W; Johnson, Carl C; Sholl, Lynette M LM; South, Andrew P AP; Marto, Jarrod A JA; Adelmant, Guillaume O GO; Blacklow, Stephen C SC; Aster, Jon C JC
Publication Date: 2020-09-16

Variant appearance in text: NOTCH1: 1406A>G; D469G
PubMed Link: 32936072
Variant Present in the following documents:
  • Main text
  • elife-58081.pdf
View BVdb publication page



Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine
Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H
Publication Date: 2016-08

Variant appearance in text: NOTCH1: D469G
PubMed Link: 27228302
Variant Present in the following documents:
  • Main text
  • CAM4-5-2048.pdf
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: 1406A>G; Asp469Gly
PubMed Link: 27045317
Variant Present in the following documents:
  • ncomms11111-s1.pdf
View BVdb publication page



Molecular basis for Jagged-1/Serrate ligand recognition by the Notch receptor.

The Journal Of Biological Chemistry
Whiteman, Pat P; de Madrid, Beatriz Hernandez BH; Taylor, Paul P; Li, Demin D; Heslop, Rebecca R; Viticheep, Nattnee N; Tan, Joyce Zi JZ; Shimizu, Hideyuki H; Callaghan, Juliana J; Masiero, Massimo M; Li, Ji Liang JL; Banham, Alison H AH; Harris, Adrian L AL; Lea, Susan M SM; Redfield, Christina C; Baron, Martin M; Handford, Penny A PA
Publication Date: 2013-03-08

Variant appearance in text: NOTCH1: D469G
PubMed Link: 23339193
Variant Present in the following documents:
  • zbc7305.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: D469G
PubMed Link: 22006338
Variant Present in the following documents:
  • Main text
View BVdb publication page