EZH2 c.475G>C ;(p.G159R)

Variant ID: 7-148526829-C-G

NM_004456.4(EZH2):c.475G>C;(p.G159R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.

Cancers
Bhattacharyya, Teerna T; Bond, Jonathan J
Publication Date: 2023-03-09

Variant appearance in text: EZH2: G159R
PubMed Link: 36980579
Variant Present in the following documents:
  • cancers-15-01693.pdf
View BVdb publication page



Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science
Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K
Publication Date: 2022-08

Variant appearance in text: EZH2: G159R
PubMed Link: 35579198
Variant Present in the following documents:
  • CAS-113-2763-s003.xlsx, sheet 10
View BVdb publication page



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: G159R
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: EZH2: 475G>C; Gly159Arg
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.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: G159R
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



EZH2 in Cancer Progression and Potential Application in Cancer Therapy: A Friend or Foe?

International Journal Of Molecular Sciences
Yan, Ke-Sin KS; Lin, Chia-Yuan CY; Liao, Tan-Wei TW; Peng, Cheng-Ming CM; Lee, Shou-Chun SC; Liu, Yi-Jui YJ; Chan, Wing P WP; Chou, Ruey-Hwang RH
Publication Date: 2017-05-31

Variant appearance in text: EZH2: G159R
PubMed Link: 28561778
Variant Present in the following documents:
  • Main text
  • ijms-18-01172.pdf
View BVdb publication page



The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

British Journal Of Haematology
McNerney, Megan E ME; Brown, Christopher D CD; Peterson, April L AL; Banerjee, Mekhala M; Larson, Richard A RA; Anastasi, John J; Le Beau, Michelle M MM; White, Kevin P KP
Publication Date: 2014-08

Variant appearance in text: EZH2: G159R
PubMed Link: 24931631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Nature Communications
Mar, Brenton G BG; Bullinger, Lars B LB; McLean, Kathleen M KM; Grauman, Peter V PV; Harris, Marian H MH; Stevenson, Kristen K; Neuberg, Donna S DS; Sinha, Amit U AU; Sallan, Stephen E SE; Silverman, Lewis B LB; Kung, Andrew L AL; Lo Nigro, Luca L; Ebert, Benjamin L BL; Armstrong, Scott A SA
Publication Date: 2014-03-24

Variant appearance in text: EZH2: G159R
PubMed Link: 24662245
Variant Present in the following documents:
  • NIHMS568254-supplement-1.pdf
View BVdb publication page



The NSD1 and EZH2 overgrowth genes, similarities and differences.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Tatton-Brown, Katrina K; Rahman, Nazneen N
Publication Date: 2013-05

Variant appearance in text: EZH2: Gly159Arg
PubMed Link: 23592277
Variant Present in the following documents:
  • Main text
View BVdb publication page