CREBBP c.3083G>A ;(p.G1028E)

Variant ID: 16-3817888-C-T

NM_004380.2(CREBBP):c.3083G>A;(p.G1028E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: G1028E
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Immune cell profiling of the cerebrospinal fluid enables the characterization of the brain metastasis microenvironment.

Nature Communications
Rubio-Perez, Carlota C; Planas-Rigol, Ester E; Trincado, Juan L JL; Bonfill-Teixidor, Ester E; Arias, Alexandra A; Marchese, Domenica D; Moutinho, Catia C; Serna, Garazi G; Pedrosa, Leire L; Iurlaro, Raffaella R; Martínez-Ricarte, Francisco F; Escudero, Laura L; Cordero, Esteban E; Cicuendez, Marta M; Ruiz, Sara S; Parra, Genís G; Nuciforo, Paolo P; Gonzalez, Josep J; Pineda, Estela E; Sahuquillo, Juan J; Tabernero, Josep J; Heyn, Holger H; Seoane, Joan J
Publication Date: 2021-03-08

Variant appearance in text: CREBBP: G1028E
PubMed Link: 33686071
Variant Present in the following documents:
  • 41467_2021_21789_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CREBBP: G1028E
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: CREBBP: G1028E
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CREBBP: G1028E
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page