DNMT3A c.145G>C ;(p.G49R)

Variant ID: 2-25523040-C-G

NM_022552.4(DNMT3A):c.145G>C;(p.G49R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: DNMT3A: Gly49Arg
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
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: G49R
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
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: 145G>C; Gly49Arg
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s4.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page