EZH2 c.1838G>A ;(p.R613Q)

Variant ID: 7-148511064-C-T


This variant was identified in 3 publications

View GRCh38 version.


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: EZH2: R613Q
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: EZH2: R613Q
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
View BVdb publication page

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: EZH2: 1838G>A; Arg613Gln
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page