DNMT3A c.1586A>C ;(p.D529A)

Variant ID: 2-25467490-T-G

NM_022552.4(DNMT3A):c.1586A>C;(p.D529A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The MECP2-TRD domain interacts with the DNMT3A-ADD domain at the H3-tail binding site.

Protein Science : A Publication Of The Protein Society
Kunert, Stefan S; Linhard, Verena V; Weirich, Sara S; Choudalakis, Michel M; Osswald, Florian F; Krämer, Lisa L; Köhler, Anja R AR; Bröhm, Alexander A; Wollenhaupt, Jan J; Schwalbe, Harald H; Jeltsch, Albert A
Publication Date: 2022-12-15

Variant appearance in text: DNMT3A: D529A
PubMed Link: 36519786
Variant Present in the following documents:
  • Main text
  • PRO-32-e4542.pdf
View BVdb publication page



Tumor suppressor CEBPA interacts with and inhibits DNMT3A activity.

Science Advances
Chen, Xiufei X; Zhou, Wenjie W; Song, Ren-Hua RH; Liu, Shuang S; Wang, Shu S; Chen, Yujia Y; Gao, Chao C; He, Chenxi C; Xiao, Jianxiong J; Zhang, Lei L; Wang, Tianxiang T; Liu, Peng P; Duan, Kunlong K; Cheng, Zhouli Z; Zhang, Chen C; Zhang, Jinye J; Sun, Yiping Y; Jackson, Felix F; Lan, Fei F; Liu, Yun Y; Xu, Yanhui Y; Wong, Justin Jong-Leong JJ; Wang, Pu P; Yang, Hui H; Xiong, Yue Y; Chen, Tong T; Li, Yan Y; Ye, Dan D
Publication Date: 2022-01-28

Variant appearance in text: DNMT3A: D529A
PubMed Link: 35080973
Variant Present in the following documents:
  • Main text
  • sciadv.abl5220.pdf
  • sciadv.abl5220_sm.pdf
View BVdb publication page



Tumor suppressor CEBPA interacts with and inhibits DNMT3A activity.

Science Advances
Chen, Xiufei X; Zhou, Wenjie W; Song, Ren-Hua RH; Liu, Shuang S; Wang, Shu S; Chen, Yujia Y; Gao, Chao C; He, Chenxi C; Xiao, Jianxiong J; Zhang, Lei L; Wang, Tianxiang T; Liu, Peng P; Duan, Kunlong K; Cheng, Zhouli Z; Zhang, Chen C; Zhang, Jinye J; Sun, Yiping Y; Jackson, Felix F; Lan, Fei F; Liu, Yun Y; Xu, Yanhui Y; Wong, Justin Jong-Leong JJ; Wang, Pu P; Yang, Hui H; Xiong, Yue Y; Chen, Tong T; Li, Yan Y; Ye, Dan D
Publication Date: 2022-01-28

Variant appearance in text: DNMT3A: D529A
PubMed Link: 35080973
Variant Present in the following documents:
  • Main text
  • sciadv.abl5220.pdf
  • sciadv.abl5220_sm.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: D529A
PubMed Link: 31164355
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

Genes
Norvil, Allison B AB; Saha, Debapriya D; Dar, Mohd Saleem MS; Gowher, Humaira H
Publication Date: 2019-05-14

Variant appearance in text: DNMT3A: Asp529Ala
PubMed Link: 31091831
Variant Present in the following documents:
  • Main text
  • genes-10-00369.pdf
View BVdb publication page