DNMT3A c.1678G>T ;(p.V560L)

Variant ID: 2-25467197-C-A

NM_022552.4(DNMT3A):c.1678G>T;(p.V560L)

This variant was identified in 4 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: DNMT3A: V560L
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Cancer Discovery
Huang, Yung-Hsin YH; Chen, Chun-Wei CW; Sundaramurthy, Venkatasubramaniam V; Słabicki, Mikołaj M; Hao, Dapeng D; Watson, Caroline J CJ; Tovy, Ayala A; Reyes, Jaime M JM; Dakhova, Olga O; Crovetti, Brielle R BR; Galonska, Christina C; Lee, Minjung M; Brunetti, Lorenzo L; Zhou, Yubin Y; Tatton-Brown, Katrina K; Huang, Yun Y; Cheng, Xiaodong X; Meissner, Alexander A; Valk, Peter J M PJM; Van Maldergem, Lionel L; Sanders, Mathijs A MA; Blundell, Jamie R JR; Li, Wei W; Ebert, Benjamin L BL; Goodell, Margaret A MA
Publication Date: 2022-01

Variant appearance in text: DNMT3A: V560L
PubMed Link: 34429321
Variant Present in the following documents:
  • 220.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: DNMT3A: V560L
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



ATR inhibitors as a synthetic lethal therapy for tumours deficient in ARID1A.

Nature Communications
Williamson, Chris T CT; Miller, Rowan R; Pemberton, Helen N HN; Jones, Samuel E SE; Campbell, James J; Konde, Asha A; Badham, Nicholas N; Rafiq, Rumana R; Brough, Rachel R; Gulati, Aditi A; Ryan, Colm J CJ; Francis, Jeff J; Vermulen, Peter B PB; Reynolds, Andrew R AR; Reaper, Philip M PM; Pollard, John R JR; Ashworth, Alan A; Lord, Christopher J CJ
Publication Date: 2016-12-13

Variant appearance in text: DNMT3A: V560L
PubMed Link: 27958275
Variant Present in the following documents:
  • ncomms13837-s4.xlsx, sheet 1
View BVdb publication page