CREBBP c.6678G>A ;(p.A2226=)

Variant ID: 16-3778370-C-T

NM_004380.2(CREBBP):c.6678G>A;(p.A2226=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.

Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Publication Date: 2021-09-21

Variant appearance in text: CREBBP: 6678G>A
PubMed Link: 34548479
Variant Present in the following documents:
  • 41467_2021_25769_MOESM5_ESM.xlsx, sheet 7
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: A2226A
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: A2226A
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page