CREBBP c.5028G>C ;(p.W1676C)

Variant ID: 16-3781337-C-G

NM_004380.2(CREBBP):c.5028G>C;(p.W1676C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: CREBBP: W1676C
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Genomic aberrations frequently alter chromatin regulatory genes in chordoma.

Genes, Chromosomes & Cancer
Wang, Lu L; Zehir, Ahmet A; Nafa, Khedoudja K; Zhou, Nengyi N; Berger, Michael F MF; Casanova, Jacklyn J; Sadowska, Justyna J; Lu, Chao C; Allis, C David CD; Gounder, Mrinal M; Chandhanayingyong, Chandhanarat C; Ladanyi, Marc M; Boland, Patrick J PJ; Hameed, Meera M
Publication Date: 2016-07

Variant appearance in text: CREBBP: W1676C
PubMed Link: 27072194
Variant Present in the following documents:
  • Main text
View BVdb publication page