CREBBP c.5317C>T ;(p.Q1773*)

Variant ID: 16-3779731-G-A

NM_004380.2(CREBBP):c.5317C>T;(p.Q1773*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: CREBBP: 5317C>T; Q1773*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



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: Q1773X
PubMed Link: 34732714
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26570.pdf
  • 41467_2021_26570_MOESM1_ESM.pdf
View BVdb publication page