CREBBP c.4496T>A ;(p.L1499Q)

Variant ID: 16-3786715-A-T

NM_004380.2(CREBBP):c.4496T>A;(p.L1499Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: CREBBP: 4496T>A; L1499Q
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials.

Haematologica
Creasey, Thomas T; Barretta, Emilio E; Ryan, Sarra L SL; Butler, Ellie E; Kirkwood, Amy A AA; Leongamornlert, Daniel D; Papaemmanuil, Elli E; Patrick, Pip P; Clifton-Hadley, Laura L; Patel, Bela B; Menne, Tobias T; McMillan, Andrew K AK; Harrison, Christine J CJ; Rowntree, Clare J CJ; Morley, Nick N; Marks, David I DI; Fielding, Adele K AK; Moorman, Anthony V AV
Publication Date: 2022-09-01

Variant appearance in text: CREBBP: L1499Q
PubMed Link: 34788984
Variant Present in the following documents:
  • Main text
  • 1072051.pdf
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: CREBBP: 4496T>A; L1499Q
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



CREBBP gene mutations are frequently detected in in situ follicular neoplasia.

Blood
Schmidt, Janine J; Ramis-Zaldivar, Joan Enric JE; Bonzheim, Irina I; Steinhilber, Julia J; Müller, Inga I; Haake, Andrea A; Yu, Shan Chi SC; Raffeld, Mark M; Fend, Falko F; Salaverria, Itziar I; Siebert, Reiner R; Jaffe, Elaine S ES; Quintanilla-Martinez, Leticia L
Publication Date: 2018-12-20

Variant appearance in text: CREBBP: 4496T>A; L1499Q
PubMed Link: 30401710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: CREBBP: L1499Q
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: CREBBP: L1499Q
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page