CREBBP c.2190dup ;(p.N731Efs*101)

Variant ID: 16-3824662-T-TC

NM_004380.2(CREBBP):c.2190dup;(p.N731Efs*101)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: CREBBP: 2190dup; Asn731GlufsX101
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Molecular Genetics & Genomic Medicine
Pérez-Grijalba, Virginia V; García-Oguiza, Alberto A; López, María M; Armstrong, Judith J; García-Miñaur, Sixto S; Mesa-Latorre, Jose María JM; O'Callaghan, Mar M; Pineda Marfa, Mercé M; Ramos-Arroyo, Maria Antonia MA; Santos-Simarro, Fernando F; Seidel, Verónica V; Domínguez-Garrido, Elena E
Publication Date: 2019-11

Variant appearance in text: CREBBP: 2190dup
PubMed Link: 31566936
Variant Present in the following documents:
  • Main text
  • MGG3-7-e972.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: CREBBP: 2190dupG; N731Efs
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 2
View BVdb publication page