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Gene | DNMT3A |
Variant | R882S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | DNMT3A R882S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R882S results in a loss of Dnmt3a protein function, as demonstrated by cytokine-independent growth and hypomethylation in cultured cells (PMID: 31164355). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A R882S |
Transcript | NM_022552.5 |
gDNA | chr2:g.25234374G>T |
cDNA | c.2644C>A |
Protein | p.R882S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_175629 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25234374G>T | c.2644C>A | p.R882S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A R882S | loss of function |