CREBBP c.3863G>A ;(p.R1288Q)

Variant ID: 16-3795329-C-T

NM_004380.2(CREBBP):c.3863G>A;(p.R1288Q)

This variant was identified in 4 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: 3863G>A; R1288H
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: CREBBP: 3863G>A; R1288Q
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s005.xlsx, sheet 1
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CREBBP: 3863G>A; R1288Q; rs371780176
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: R1288Q; rs371780176
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page