CREBBP c.527G>T ;(p.C176F)

Variant ID: 16-3900569-C-A

NM_004380.2(CREBBP):c.527G>T;(p.C176F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Inhibition of histone acetyltransferase function radiosensitizes CREBBP/EP300 mutants via repression of homologous recombination, potentially targeting a gain of function.

Nature Communications
Kumar, Manish M; Molkentine, David D; Molkentine, Jessica J; Bridges, Kathleen K; Xie, Tongxin T; Yang, Liangpeng L; Hefner, Andrew A; Gao, Meng M; Bahri, Reshub R; Dhawan, Annika A; Frederick, Mitchell J MJ; Seth, Sahil S; Abdelhakiem, Mohamed M; Beadle, Beth M BM; Johnson, Faye F; Wang, Jing J; Shen, Li L; Heffernan, Timothy T; Sheth, Aakash A; Ferris, Robert L RL; Myers, Jeffrey N JN; Pickering, Curtis R CR; Skinner, Heath D HD
Publication Date: 2021-11-03

Variant appearance in text: CREBBP: C176F
PubMed Link: 34732714
Variant Present in the following documents:
  • 41467_2021_26570_MOESM1_ESM.pdf
View BVdb publication page



Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome.

Nature Communications
Hartlieb, Sabine A SA; Sieverling, Lina L; Nadler-Holly, Michal M; Ziehm, Matthias M; Toprak, Umut H UH; Herrmann, Carl C; Ishaque, Naveed N; Okonechnikov, Konstantin K; Gartlgruber, Moritz M; Park, Young-Gyu YG; Wecht, Elisa Maria EM; Savelyeva, Larissa L; Henrich, Kai-Oliver KO; Rosswog, Carolina C; Fischer, Matthias M; Hero, Barbara B; Jones, David T W DTW; Pfaff, Elke E; Witt, Olaf O; Pfister, Stefan M SM; Volckmann, Richard R; Koster, Jan J; Kiesel, Katharina K; Rippe, Karsten K; Taschner-Mandl, Sabine S; Ambros, Peter P; Brors, Benedikt B; Selbach, Matthias M; Feuerbach, Lars L; Westermann, Frank F
Publication Date: 2021-02-24

Variant appearance in text: CREBBP: C176F
PubMed Link: 33627664
Variant Present in the following documents:
  • 41467_2021_21247_MOESM14_ESM.xlsx, sheet 17
View BVdb publication page