DNMT3A c.2020A>G ;(p.M674V)

Variant ID: 2-25464493-T-C

NM_022552.4(DNMT3A):c.2020A>G;(p.M674V)

This variant was identified in 3 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: M674V
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Kidney International Reports
Denicolò, Sara S; Vogi, Verena V; Keller, Felix F; Thöni, Stefanie S; Eder, Susanne S; Heerspink, Hiddo J L HJL; Rosivall, László L; Wiecek, Andrzej A; Mark, Patrick B PB; Perco, Paul P; Leierer, Johannes J; Kronbichler, Andreas A; Steger, Marion M; Schwendinger, Simon S; Zschocke, Johannes J; Mayer, Gert G; Jukic, Emina E
Publication Date: 2022-04

Variant appearance in text: DNMT3A: 2020A>G; Met674Val
PubMed Link: 35497780
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: DNMT3A: M674V
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 17
View BVdb publication page