CREBBP c.3295G>A ;(p.E1099K)

Variant ID: 16-3808929-C-T

NM_004380.2(CREBBP):c.3295G>A;(p.E1099K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics
Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y
Publication Date: 2023-02-04

Variant appearance in text: CREBBP: 3295G>A; E1099K
PubMed Link: 36739388
Variant Present in the following documents:
  • 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: CREBBP: E1099K
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.

Blood Cancer Discovery
Waanders, Esmé E; Gu, Zhaohui Z; Dobson, Stephanie M SM; Antić, Željko Ž; Crawford, Jeremy Chase JC; Ma, Xiaotu X; Edmonson, Michael N MN; Payne-Turner, Debbie D; van der Vorst, Maartje M; Jongmans, Marjolijn C J MCJ; McGuire, Irina I; Zhou, Xin X; Wang, Jian J; Shi, Lei L; Pounds, Stanley S; Pei, Deqing D; Cheng, Cheng C; Song, Guangchun G; Fan, Yiping Y; Shao, Ying Y; Rusch, Michael M; McCastlain, Kelly K; Yu, Jiangyan J; van Boxtel, Ruben R; Blokzijl, Francis F; Iacobucci, Ilaria I; Roberts, Kathryn G KG; Wen, Ji J; Wu, Gang G; Ma, Jing J; Easton, John J; Neale, Geoffrey G; Olsen, Scott R SR; Nichols, Kim E KE; Pui, Ching-Hon CH; Zhang, Jinghui J; Evans, William E WE; Relling, Mary V MV; Yang, Jun J JJ; Thomas, Paul G PG; Dick, John E JE; Kuiper, Roland P RP; Mullighan, Charles G CG
Publication Date: 2020-07

Variant appearance in text: CREBBP: E1099K
PubMed Link: 32793890
Variant Present in the following documents:
  • Main text
View BVdb publication page



KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia
Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2015-08

Variant appearance in text: CREBBP: E1099K
PubMed Link: 25917266
Variant Present in the following documents:
  • leu2015107x1.pdf
View BVdb publication page