DNMT3A c.952C>T ;(p.R318W)

Variant ID: 2-25470522-G-A

NM_022552.4(DNMT3A):c.952C>T;(p.R318W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: R318W
PubMed Link: 34429321
Variant Present in the following documents:
  • 220.pdf
View BVdb publication page



Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

Genes
Norvil, Allison B AB; Saha, Debapriya D; Dar, Mohd Saleem MS; Gowher, Humaira H
Publication Date: 2019-05-14

Variant appearance in text: DNMT3A: Arg318Trp
PubMed Link: 31091831
Variant Present in the following documents:
  • Main text
  • genes-10-00369.pdf
View BVdb publication page



The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

The Journal Of Pathology. Clinical Research
Jour, George G; Wang, Lu L; Middha, Sumit S; Zehir, Ahmet A; Chen, Wen W; Sadowska, Justyna J; Healey, John J; Agaram, Narasimhan P NP; Choi, Lisa L; Nafa, Khedoudja K; Hameed, Meera M
Publication Date: 2016-01

Variant appearance in text: DNMT3A: 952C>T; R318W
PubMed Link: 27499911
Variant Present in the following documents:
  • CJP2-2-09-s001.xlsx, sheet 1
View BVdb publication page