DNMT3A c.2657A>G ;(p.Q886R)

Variant ID: 2-25457230-T-C

NM_022552.4(DNMT3A):c.2657A>G;(p.Q886R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: DNMT3A: Q886R
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: DNMT3A: Q886R
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.

Blood Advances
Obiorah, Ifeyinwa Emmanuela IE; Patel, Bhavisha A BA; Groarke, Emma M EM; Wang, Weixin W; Trick, Megan M; Ombrello, Amanda K AK; Ferrada, Marcela A MA; Wu, Zhijie Z; Gutierrez-Rodrigues, Fernanda F; Lotter, Jennifer J; Wilson, Lorena L; Hoffmann, Patrycja P; Cardona, Daniela Ospina DO; Patel, Nisha N; Dulau-Florea, Alina A; Kastner, Daniel L DL; Grayson, Peter C PC; Beck, David B DB; Young, Neal S NS; Calvo, Katherine R KR
Publication Date: 2021-08-24

Variant appearance in text: DNMT3A: 2657A>G; Gln886Arg
PubMed Link: 34427584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: DNMT3A: 2657A>G; Q886R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.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: 2657A>G; Q886R
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



DNMT3A mutations in Chinese childhood acute myeloid leukemia.

Medicine
Li, Weijing W; Cui, Lei L; Gao, Chao C; Liu, Shuguang S; Zhao, Xiaoxi X; Zhang, Ruidong R; Zheng, Huyong H; Wu, Minyuan M; Li, Zhigang Z
Publication Date: 2017-08

Variant appearance in text: DNMT3A: 2657A>G; Q886R
PubMed Link: 28767575
Variant Present in the following documents:
  • medi-96-e7620.pdf
View BVdb publication page