DNMT3A c.998A>C ;(p.D333A)

Variant ID: 2-25470476-T-G

NM_022552.4(DNMT3A):c.998A>C;(p.D333A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: DNMT3A: D333A
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.

Nature
Weinberg, Daniel N DN; Papillon-Cavanagh, Simon S; Chen, Haifen H; Yue, Yuan Y; Chen, Xiao X; Rajagopalan, Kartik N KN; Horth, Cynthia C; McGuire, John T JT; Xu, Xinjing X; Nikbakht, Hamid H; Lemiesz, Agata E AE; Marchione, Dylan M DM; Marunde, Matthew R MR; Meiners, Matthew J MJ; Cheek, Marcus A MA; Keogh, Michael-Christopher MC; Bareke, Eric E; Djedid, Anissa A; Harutyunyan, Ashot S AS; Jabado, Nada N; Garcia, Benjamin A BA; Li, Haitao H; Allis, C David CD; Majewski, Jacek J; Lu, Chao C
Publication Date: 2019-09

Variant appearance in text: DNMT3A: D333A
PubMed Link: 31485078
Variant Present in the following documents:
  • Main text
  • NIHMS1536823-supplement-2.pdf
  • nihms-1536823.pdf
View BVdb publication page



A Model System for Studying the DNMT3A Hotspot Mutation (DNMT3AR882) Demonstrates a Causal Relationship between Its Dominant-Negative Effect and Leukemogenesis.

Cancer Research
Lu, Rui R; Wang, Jun J; Ren, Zhihong Z; Yin, Jiekai J; Wang, Yinsheng Y; Cai, Ling L; Wang, Gang Greg GG
Publication Date: 2019-07-15

Variant appearance in text: DNMT3A: D333A
PubMed Link: 31164355
Variant Present in the following documents:
  • Main text
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 998A>C; Asp333Ala
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page