DNMT3A c.2369G>A ;(p.R790K)

Variant ID: 2-25462038-C-T

NM_022552.4(DNMT3A):c.2369G>A;(p.R790K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: DNMT3A: 2369G>A
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Author Correction: Clonal hematopoiesis in patients with rheumatoid arthritis.

Blood Cancer Journal
Savola, Paula P; Lundgren, Sofie S; Keränen, Mikko A I MAI; Almusa, Henrikki H; Ellonen, Pekka P; Leirisalo-Repo, Marjatta M; Kelkka, Tiina T; Mustjoki, Satu S
Publication Date: 2021-02-17

Variant appearance in text: DNMT3A: R790K
PubMed Link: 33597539
Variant Present in the following documents:
  • 41408_2021_Article_427.pdf
View BVdb publication page



Clonal hematopoiesis in patients with rheumatoid arthritis.

Blood Cancer Journal
Savola, Paula P; Lundgren, Sofie S; Keränen, Mikko A I MAI; Almusa, Henrikki H; Ellonen, Pekka P; Leirisalo-Repo, Marjatta M; Kelkka, Tiina T; Mustjoki, Satu S
Publication Date: 2018-07-26

Variant appearance in text: DNMT3A: R790K
PubMed Link: 30061683
Variant Present in the following documents:
  • Main text
  • 41408_2018_Article_107.pdf
  • 41408_2018_107_MOESM1_ESM.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: 2369G>A; Arg790Lys
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 9
View BVdb publication page