CREBBP c.4480C>A ;(p.P1494T)

Variant ID: 16-3786731-G-T

NM_004380.2(CREBBP):c.4480C>A;(p.P1494T)

This variant was identified in 4 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: P1494T
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06

Variant appearance in text: CREBBP: 4480C>A
PubMed Link: 33547396
Variant Present in the following documents:
  • Main text
  • 41436_2020_1096_MOESM2_ESM.xlsx, sheet 1
  • 41436_2020_Article_1096.pdf
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: CREBBP: 4480C>A; Pro1494Thr
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.

Leukemia
Inthal, A A; Zeitlhofer, P P; Zeginigg, M M; Morak, M M; Grausenburger, R R; Fronkova, E E; Fahrner, B B; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2012-08

Variant appearance in text: CREBBP: 4480C>A; P1494T
PubMed Link: 22388726
Variant Present in the following documents:
  • Main text
View BVdb publication page