DNMT3A c.997G>A ;(p.D333N)

Variant ID: 2-25470477-C-T

NM_022552.4(DNMT3A):c.997G>A;(p.D333N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A Rare Manifestation of a Presumed Non-Osteophilic Brain Neoplasm: Extensive Axial Skeletal Metastases From Glioblastoma With Primitive Neuronal Components.

Frontiers In Oncology
Rong, Tianhua T; Zou, Wanjing W; Qiu, Xiaoguang X; Cui, Wei W; Zhang, Duo D; Wu, Bingxuan B; Kang, Zhuang Z; Li, Wenbin W; Liu, Baoge B
Publication Date: 2021

Variant appearance in text: DNMT3A: 997G>A
PubMed Link: 34796114
Variant Present in the following documents:
  • Main text
View BVdb publication page



The DNMT3A PWWP domain is essential for the normal DNA methylation landscape in mouse somatic cells and oocytes.

Plos Genetics
Kibe, Kanako K; Shirane, Kenjiro K; Ohishi, Hiroaki H; Uemura, Shuhei S; Toh, Hidehiro H; Sasaki, Hiroyuki H
Publication Date: 2021-05

Variant appearance in text: DNMT3A: D333N
PubMed Link: 34048432
Variant Present in the following documents:
  • Main text
  • pgen.1009570.pdf
View BVdb publication page



Alterations to DNMT3A in Hematologic Malignancies.

Cancer Research
Venugopal, Kartika K; Feng, Yang Y; Shabashvili, Daniil D; Guryanova, Olga A OA
Publication Date: 2021-01-15

Variant appearance in text: DNMT3A: D333N
PubMed Link: 33087320
Variant Present in the following documents:
  • Main text
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: Asp333Asn
PubMed Link: 31091831
Variant Present in the following documents:
  • Main text
  • genes-10-00369.pdf
View BVdb publication page



Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Nature Genetics
Heyn, Patricia P; Logan, Clare V CV; Fluteau, Adeline A; Challis, Rachel C RC; Auchynnikava, Tatsiana T; Martin, Carol-Anne CA; Marsh, Joseph A JA; Taglini, Francesca F; Kilanowski, Fiona F; Parry, David A DA; Cormier-Daire, Valerie V; Fong, Chin-To CT; Gibson, Kate K; Hwa, Vivian V; Ibáñez, Lourdes L; Robertson, Stephen P SP; Sebastiani, Giorgia G; Rappsilber, Juri J; Allshire, Robin C RC; Reijns, Martin A M MAM; Dauber, Andrew A; Sproul, Duncan D; Jackson, Andrew P AP
Publication Date: 2019-01

Variant appearance in text: DNMT3A: 997G>A; D333N
PubMed Link: 30478443
Variant Present in the following documents:
  • Main text
  • nihms-1509438.pdf
View BVdb publication page