CREBBP c.2539C>A ;(p.P847T)

Variant ID: 16-3820912-G-T

NM_004380.2(CREBBP):c.2539C>A;(p.P847T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer
Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S
Publication Date: 2021-02-15

Variant appearance in text: CREBBP: 2539C>A; Pro847Thr; rs139050013
PubMed Link: 33588785
Variant Present in the following documents:
  • 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019

Variant appearance in text: CREBBP: P847T; rs139050013
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx, sheet 1
View BVdb publication page



Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
Publication Date: 2019-07

Variant appearance in text: CREBBP: Pro847Thr
PubMed Link: 30675012
Variant Present in the following documents:
  • 41375_2018_309_MOESM21_ESM.pdf
View BVdb publication page



Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma.

Cancer Science
Nakamura, Taishi T; Fukuoka, Kohei K; Nakano, Yoshiko Y; Yamasaki, Kai K; Matsushita, Yuko Y; Yamashita, Satoshi S; Ikeda, Junji J; Udaka, Naoko N; Tanoshima, Reo R; Shiba, Norio N; Tateishi, Kensuke K; Yamanaka, Shoji S; Yamamoto, Tetsuya T; Hirato, Junko J; Ichimura, Koichi K
Publication Date: 2019-02

Variant appearance in text: CREBBP: 2539C>A; Pro847Thr
PubMed Link: 30609203
Variant Present in the following documents:
  • CAS-110-828-s011.xlsx, sheet 1
View BVdb publication page



Clinical Relevance of Genomic Changes in Recurrent Pediatric Solid Tumors.

Translational Oncology
Lee, Boram B; Lee, Ji Won JW; Shim, Joon Ho JH; Joung, Je-Gun JG; Yun, Jae Won JW; Bae, Joon Seol JS; Shin, Hyun-Tae HT; Sung, Ki Woong KW; Park, Woong-Yang WY
Publication Date: 2018-12

Variant appearance in text: CREBBP: P847T
PubMed Link: 30216764
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: CREBBP: P847T; rs139050013
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page