DNMT3A c.2089G>T ;(p.E697*)

Variant ID: 2-25463593-C-A

NM_022552.4(DNMT3A):c.2089G>T;(p.E697*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: DNMT3A: E697*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.

Internal Medicine (Tokyo, Japan)
Murakami, Ken K; Yamaguchi, Yuuta Y; Kida, Yuko Y; Morikawa, Yoichiro Y; Ujiie, Hidetoshi H; Sugahara, Hiroyuki H; Nannya, Yasuhito Y; Ogawa, Seishi S; Kanakura, Yuzuru Y
Publication Date: 2021-12-01

Variant appearance in text: DNMT3A: E697*
PubMed Link: 34053991
Variant Present in the following documents:
  • Main text
  • 1349-7235-60-3785.pdf
View BVdb publication page



Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.

Internal Medicine (Tokyo, Japan)
Murakami, Ken K; Yamaguchi, Yuuta Y; Kida, Yuko Y; Morikawa, Yoichiro Y; Ujiie, Hidetoshi H; Sugahara, Hiroyuki H; Nannya, Yasuhito Y; Ogawa, Seishi S; Kanakura, Yuzuru Y
Publication Date: 2021-12-01

Variant appearance in text: DNMT3A: E697*
PubMed Link: 34053991
Variant Present in the following documents:
  • Main text
  • 1349-7235-60-3785.pdf
View BVdb publication page



DPP8/DPP9 inhibitor-induced pyroptosis for treatment of acute myeloid leukemia.

Nature Medicine
Johnson, Darren C DC; Taabazuing, Cornelius Y CY; Okondo, Marian C MC; Chui, Ashley J AJ; Rao, Sahana D SD; Brown, Fiona C FC; Reed, Casie C; Peguero, Elizabeth E; de Stanchina, Elisa E; Kentsis, Alex A; Bachovchin, Daniel A DA
Publication Date: 2018-08

Variant appearance in text: DNMT3A: E697*
PubMed Link: 29967349
Variant Present in the following documents:
  • NIHMS964309-supplement-1.pdf
  • NIHMS964309-supplement-2.pdf
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: DNMT3A: 2089G>T; Glu697*
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page