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

Variant ID: 2-25523040-C-T

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

This variant was identified in 5 publications

View GRCh38 version.




Publications:


RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Leukemia
Kaisrlikova, Monika M; Vesela, Jitka J; Kundrat, David D; Votavova, Hana H; Dostalova Merkerova, Michaela M; Krejcik, Zdenek Z; Divoky, Vladimir V; Jedlicka, Marek M; Fric, Jan J; Klema, Jiri J; Mikulenkova, Dana D; Stastna Markova, Marketa M; Lauermannova, Marie M; Mertova, Jolana J; Soukupova Maaloufova, Jacqueline J; Jonasova, Anna A; Cermak, Jaroslav J; Belickova, Monika M
Publication Date: 2022-07

Variant appearance in text: DNMT3A: 145G>A; Gly49Arg
PubMed Link: 35505182
Variant Present in the following documents:
  • 41375_2022_1584_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: DNMT3A: 145G>A; Gly49Arg
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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>A; Gly49Arg
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page