CREBBP c.5098C>A ;(p.Q1700K)

Variant ID: 16-3781267-G-T

NM_004380.2(CREBBP):c.5098C>A;(p.Q1700K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: CREBBP: Q1700K
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Mutations in epigenetic regulators are involved in acute lymphoblastic leukemia relapse following allogeneic hematopoietic stem cell transplantation.

Oncotarget
Xiao, Haowen H; Wang, Li-Mengmeng LM; Luo, Yi Y; Lai, Xiaoyu X; Li, Caihua C; Shi, Jimin J; Tan, Yamin Y; Fu, Shan S; Wang, Yebo Y; Zhu, Ni N; He, Jingsong J; Zheng, Weiyan W; Yu, Xiaohong X; Cai, Zhen Z; Huang, He H
Publication Date: 2016-01-19

Variant appearance in text: CREBBP: 5098C>A; Q1700K
PubMed Link: 26527318
Variant Present in the following documents:
  • Main text
  • oncotarget-07-2696.pdf
View BVdb publication page