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DNMT3A c.2185_2186delinsGC ;(p.R729A)
Variant ID: 2-25463307-CG-GC
NM_022552.4(
DNMT3A
):c.2185_2186delinsGC;(p.R729A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The R882H substitution in the human de novo DNA methyltransferase DNMT3A disrupts allosteric regulation by the tumor supressor p53.
The Journal Of Biological Chemistry
Sandoval, Jonathan E JE; Reich, Norbert O NO
Publication Date: 2019-11-29
Variant appearance in text: DNMT3A: R729A
PubMed Link:
31640986
Variant Present in the following documents:
Main text
View BVdb publication page
Oligomerization of DNMT3A controls the mechanism of de novo DNA methylation.
The Journal Of Biological Chemistry
Holz-Schietinger, Celeste C; Matje, Douglas M DM; Harrison, Madeleine Flexer MF; Reich, Norbert O NO
Publication Date: 2011-12-02
Variant appearance in text: DNMT3A: R729A
PubMed Link:
21979949
Variant Present in the following documents:
Main text
View BVdb publication page