EZH2 c.2016C>A ;(p.F672L)

Variant ID: 7-148507438-G-T

NM_004456.4(EZH2):c.2016C>A;(p.F672L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Scientific Reports
Park, Sooyong S; Yun, Jiwon J; Choi, Sung Yoon SY; Jeong, Dajeong D; Gu, Ja-Yoon JY; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Chang, Yoon Hwan YH; Yun, Hongseok H; Kim, Hyun Kyung HK
Publication Date: 2023-05-04

Variant appearance in text: EZH2: 2016C>A; Phe672Leu
PubMed Link: 37142644
Variant Present in the following documents:
  • 41598_2023_33928_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: EZH2: F672L
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.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: F672L
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: EZH2: Phe672Leu
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page