DNMT3A c.1937G>T ;(p.G646V)

Variant ID: 2-25464576-C-A

NM_022552.4(DNMT3A):c.1937G>T;(p.G646V)

This variant was identified in 8 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: G646V
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: DNMT3A: G646V
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Focal disruption of DNA methylation dynamics at enhancers in IDH-mutant AML cells.

Leukemia
Wilson, Elisabeth R ER; Helton, Nichole M NM; Heath, Sharon E SE; Fulton, Robert S RS; Payton, Jacqueline E JE; Welch, John S JS; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Link, Daniel C DC; Miller, Christopher A CA; Ley, Timothy J TJ; Spencer, David H DH
Publication Date: 2022-04

Variant appearance in text: DNMT3A: G646V
PubMed Link: 34873300
Variant Present in the following documents:
  • 41375_2021_1476_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: DNMT3A: G646V
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd01.xlsx, sheet 1
  • pnas.2116427118.sd02.xlsx, sheet 1
  • pnas.2116427118.sd13.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: DNMT3A: G646V
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
  • pnas.2116427118.sd13.xlsx, sheet 1
  • pnas.2116427118.sd01.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: DNMT3A: G646V
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 14
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DNMT3A: G646V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: G646V
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DNMT3A: G646V
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page