EZH2 c.1529A>G ;(p.K510R)

Variant ID: 7-148512615-T-C

NM_004456.4(EZH2):c.1529A>G;(p.K510R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: EZH2: K510R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



S6K1 amplification confers innate resistance to CDK4/6 inhibitors through activating c-Myc pathway in patients with estrogen receptor-positive breast cancer.

Molecular Cancer
Mo, Hongnan H; Liu, Xuefeng X; Xue, Yu Y; Chen, Hongyan H; Guo, Shichao S; Li, Zhangfu Z; Wang, Shuang S; Li, Caiming C; Han, Jiashu J; Fu, Ming M; Song, Yongmei Y; Li, Dan D; Ma, Fei F
Publication Date: 2022-08-30

Variant appearance in text: EZH2: 1529A>G; K510R
PubMed Link: 36042494
Variant Present in the following documents:
  • 12943_2022_1642_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mechanistic Insights into the Allosteric Regulation of the Clr4 Protein Lysine Methyltransferase by Autoinhibition and Automethylation.

International Journal Of Molecular Sciences
Khella, Mina S MS; Bröhm, Alexander A; Weirich, Sara S; Jeltsch, Albert A
Publication Date: 2020-11-22

Variant appearance in text: EZH2: K510R
PubMed Link: 33266419
Variant Present in the following documents:
  • Main text
  • ijms-21-08832.pdf
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: EZH2: K510R
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 70
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 23
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 11
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 24
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 20
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 25
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 65
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 55
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 32
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 69
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 48
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 21
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 47
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 71
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 91
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 80
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: K510R
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: K510R
PubMed Link: 28561778
Variant Present in the following documents:
  • Main text
  • ijms-18-01172.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: EZH2: 1529A>G; K510R
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: EZH2: 1529A>G; K510R
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page