DNMT3A c.1706C>T ;(p.P569L)

Variant ID: 2-25467169-G-A

NM_022552.4(DNMT3A):c.1706C>T;(p.P569L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: DNMT3A: P569L
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
View BVdb publication page



NPM1 gene mutations can be confidently identified in blood DNA months before de novo AML onset.

Blood Advances
Quiros, Pedro M PM; Gu, Muxin M; Barcena, Clea C; Iyer, Vivek V; Vassiliou, George S GS
Publication Date: 2022-04-12

Variant appearance in text: DNMT3A: P569L
PubMed Link: 34920452
Variant Present in the following documents:
  • advancesADV2021005927-suppl1.pdf
View BVdb publication page



Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Cancer Discovery
Huang, Yung-Hsin YH; Chen, Chun-Wei CW; Sundaramurthy, Venkatasubramaniam V; Słabicki, Mikołaj M; Hao, Dapeng D; Watson, Caroline J CJ; Tovy, Ayala A; Reyes, Jaime M JM; Dakhova, Olga O; Crovetti, Brielle R BR; Galonska, Christina C; Lee, Minjung M; Brunetti, Lorenzo L; Zhou, Yubin Y; Tatton-Brown, Katrina K; Huang, Yun Y; Cheng, Xiaodong X; Meissner, Alexander A; Valk, Peter J M PJM; Van Maldergem, Lionel L; Sanders, Mathijs A MA; Blundell, Jamie R JR; Li, Wei W; Ebert, Benjamin L BL; Goodell, Margaret A MA
Publication Date: 2022-01

Variant appearance in text: DNMT3A: P569L
PubMed Link: 34429321
Variant Present in the following documents:
  • 220.pdf
View BVdb publication page