EZH2 c.281A>G ;(p.Q94R)

Variant ID: 7-148529808-T-C

NM_004456.4(EZH2):c.281A>G;(p.Q94R)

This variant was identified in 3 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: EZH2: Q94R
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Leukemia
Lim, Tristan L TL; Lieberman, David B DB; Davis, Adam R AR; Loren, Alison W AW; Hausler, Ryan R; Bigdeli, Ashkan A; Li, Yimei Y; Powers, Jacquelyn J; Raper, Anna A; Regeneron Genetics Center, ; Carty, Shannon A SA; Nathanson, Katherine L KL; Bagg, Adam A; Hexner, Elizabeth O EO; Maxwell, Kara N KN; Morrissette, Jennifer J D JJD; Babushok, Daria V DV
Publication Date: 2022-01

Variant appearance in text: EZH2: Q94R
PubMed Link: 34193977
Variant Present in the following documents:
  • NIHMS1716876-supplement-Supplemental_Table_S5.pdf
View BVdb publication page



Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology
Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W
Publication Date: 2019

Variant appearance in text: EZH2: Q94R
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page