DNMT3A c.2333T>A ;(p.V778E)

Variant ID: 2-25462074-A-T

NM_022552.4(DNMT3A):c.2333T>A;(p.V778E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.

Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18

Variant appearance in text: DNMT3A: 2333T>A; Val778Glu
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.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: 2333T>A; Val778Glu
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
  • bty518_supplementary_data_s2.xlsx, sheet 9
  • bty518_supplementary_data_s6.xlsx, sheet 9
View BVdb publication page



DNMT3A mutations promote anthracycline resistance in acute myeloid leukemia via impaired nucleosome remodeling.

Nature Medicine
Guryanova, Olga A OA; Shank, Kaitlyn K; Spitzer, Barbara B; Luciani, Luisa L; Koche, Richard P RP; Garrett-Bakelman, Francine E FE; Ganzel, Chezi C; Durham, Benjamin H BH; Mohanty, Abhinita A; Hoermann, Gregor G; Rivera, Sharon A SA; Chramiec, Alan G AG; Pronier, Elodie E; Bastian, Lennart L; Keller, Matthew D MD; Tovbin, Daniel D; Loizou, Evangelia E; Weinstein, Abby R AR; Gonzalez, Adriana Rodriguez AR; Lieu, Yen K YK; Rowe, Jacob M JM; Pastore, Friederike F; McKenney, Anna Sophia AS; Krivtsov, Andrei V AV; Sperr, Wolfgang R WR; Cross, Justin R JR; Mason, Christopher E CE; Tallman, Martin S MS; Arcila, Maria E ME; Abdel-Wahab, Omar O; Armstrong, Scott A SA; Kubicek, Stefan S; Staber, Philipp B PB; Gönen, Mithat M; Paietta, Elisabeth M EM; Melnick, Ari M AM; Nimer, Stephen D SD; Mukherjee, Siddhartha S; Levine, Ross L RL
Publication Date: 2016-12

Variant appearance in text: DNMT3A: V778E
PubMed Link: 27841873
Variant Present in the following documents:
  • Main text
View BVdb publication page