DNMT3A c.2188C>T ;(p.L730F)

Variant ID: 2-25463305-G-A

NM_022552.4(DNMT3A):c.2188C>T;(p.L730F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: DNMT3A: 2188C>T
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Cancers
Segura-Díaz, Adrián A; Stuckey, Ruth R; Florido, Yanira Y; González-Martín, Jesús María JM; López-Rodríguez, Juan Francisco JF; Sánchez-Sosa, Santiago S; González-Pérez, Elena E; Sáez Perdomo, María Nieves MN; Perera, María Del Mar MDM; de la Iglesia, Silvia S; Molero-Labarta, Teresa T; Gómez-Casares, María Teresa MT; Bilbao-Sieyro, Cristina C
Publication Date: 2020-04-10

Variant appearance in text: DNMT3A: 2188C>T
PubMed Link: 32290079
Variant Present in the following documents:
  • cancers-12-00934-s001.pdf
View BVdb publication page