DNMT3A c.2165G>A ;(p.G722D)

Variant ID: 2-25463517-C-T

NM_022552.4(DNMT3A):c.2165G>A;(p.G722D)

This variant was identified in 5 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: G722D
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Pseudo-mutant P53 is a unique phenotype of DNMT3A-mutated pre-leukemia.

Haematologica
Tuval, Amos A; Brilon, Yardena Y; Azogy, Hadas H; Moskovitz, Yoni Y; Leshkowitz, Dena D; Salame, Tomer M TM; Minden, Mark D MD; Tal, Perry P; Rotter, Varda V; Oren, Moshe M; Kaushansky, Nathali N; Shlush, Liran I LI
Publication Date: 2022-11-01

Variant appearance in text: DNMT3A: G722D
PubMed Link: 35199506
Variant Present in the following documents:
  • 2021_280329_TUVAL_SUPPL.pdf
View BVdb publication page



Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing.

Cancer Reports (Hoboken, N.J.)
Lit, Benny Man Wai BMW; Guo, Belinda B BB; Malherbe, Jacques A J JAJ; Kwong, Yok Lam YL; Erber, Wendy N WN
Publication Date: 2022-10

Variant appearance in text: DNMT3A: G722D
PubMed Link: 34617422
Variant Present in the following documents:
  • Main text
  • CNR2-5-e1573.pdf
View BVdb publication page



Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: DNMT3A: 2165G>A; G722D
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



Dynamics of mutations in patients with essential thrombocythemia treated with imetelstat.

Haematologica
Oppliger Leibundgut, Elisabeth E; Haubitz, Monika M; Burington, Bart B; Ottmann, Oliver G OG; Spitzer, Gary G; Odenike, Olatoyosi O; McDevitt, Michael A MA; Röth, Alexander A; Snyder, David S DS; Baerlocher, Gabriela M GM
Publication Date: 2021-09-01

Variant appearance in text: DNMT3A: Gly722Asp
PubMed Link: 32732354
Variant Present in the following documents:
  • 2020_252817_LEIBUNDGUT_SUPPL.pdf
  • 1062397.pdf
View BVdb publication page