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| Gene | DNMT3A |
| Variant | D876G |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | DNMT3A D876G lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). D876G disrupts Dnmt3a tetramer formation and leads to decreased Dnmt3a activity in in vitro assays (PMID: 22722925). |
| Associated Drug Resistance | |
| Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A D876G |
| Transcript | NM_022552.5 |
| gDNA | chr2:g.25234391T>C |
| cDNA | c.2627A>G |
| Protein | p.D876G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_175629.2 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_005264175.6 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_017003526 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| NM_022552.4 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_017003526.2 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| NM_175629 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_017003526.1 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_005264175.5 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| NM_022552 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| XM_005264175 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| NM_022552.5 | chr2:g.25234391T>C | c.2627A>G | p.D876G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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