DNMT3A c.1929C>G ;(p.I643M)

Variant ID: 2-25466774-G-C

NM_022552.4(DNMT3A):c.1929C>G;(p.I643M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: I643M
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: DNMT3A: 1929C>G; I643M
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
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: 1929C>G; Ile643Met
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 2
View BVdb publication page



SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells.

Blood
Mortera-Blanco, Teresa T; Dimitriou, Marios M; Woll, Petter S PS; Karimi, Mohsen M; Elvarsdottir, Edda E; Conte, Simona S; Tobiasson, Magnus M; Jansson, Monika M; Douagi, Iyadh I; Moarii, Matahi M; Saft, Leonie L; Papaemmanuil, Elli E; Jacobsen, Sten Eirik W SEW; Hellström-Lindberg, Eva E
Publication Date: 2017-08-17

Variant appearance in text: DNMT3A: I643M
PubMed Link: 28634182
Variant Present in the following documents:
  • Main text
View BVdb publication page