CREBBP c.2074C>A ;(p.P692T)

Variant ID: 16-3828051-G-T

NM_004380.2(CREBBP):c.2074C>A;(p.P692T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: CREBBP: 2074C>A; P692T
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page



Targeted mutational profiling of peripheral T-cell lymphoma not otherwise specified highlights new mechanisms in a heterogeneous pathogenesis.

Leukemia
Schatz, J H JH; Horwitz, S M SM; Teruya-Feldstein, J J; Lunning, M A MA; Viale, A A; Huberman, K K; Socci, N D ND; Lailler, N N; Heguy, A A; Dolgalev, I I; Migliacci, J C JC; Pirun, M M; Palomba, M L ML; Weinstock, D M DM; Wendel, H-G HG
Publication Date: 2015-01

Variant appearance in text: CREBBP: P692T
PubMed Link: 25257991
Variant Present in the following documents:
  • Main text
  • leu2014261a.pdf
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: CREBBP: P692T
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

The Journal Of Experimental Medicine
Rossi, Davide D; Trifonov, Vladimir V; Fangazio, Marco M; Bruscaggin, Alessio A; Rasi, Silvia S; Spina, Valeria V; Monti, Sara S; Vaisitti, Tiziana T; Arruga, Francesca F; Famà, Rosella R; Ciardullo, Carmela C; Greco, Mariangela M; Cresta, Stefania S; Piranda, Daniela D; Holmes, Antony A; Fabbri, Giulia G; Messina, Monica M; Rinaldi, Andrea A; Wang, Jiguang J; Agostinelli, Claudio C; Piccaluga, Pier Paolo PP; Lucioni, Marco M; Tabbò, Fabrizio F; Serra, Roberto R; Franceschetti, Silvia S; Deambrogi, Clara C; Daniele, Giulia G; Gattei, Valter V; Marasca, Roberto R; Facchetti, Fabio F; Arcaini, Luca L; Inghirami, Giorgio G; Bertoni, Francesco F; Pileri, Stefano A SA; Deaglio, Silvia S; Foà, Robin R; Dalla-Favera, Riccardo R; Pasqualucci, Laura L; Rabadan, Raul R; Gaidano, Gianluca G
Publication Date: 2012-08-27

Variant appearance in text: CREBBP: P692T
PubMed Link: 22891273
Variant Present in the following documents:
  • Main text
  • JEM_20120904.pdf
View BVdb publication page