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| Gene | DNMT3A |
| Variant | R729Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | DNMT3A R729Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R729Q has been identified in the scientific literature (PMID: 21067377, PMID: 28446434, PMID: 36219880), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
DNMT3A mutant DNMT3A R729Q |
| Transcript | NM_022552.5 |
| gDNA | chr2:g.25240438C>T |
| cDNA | c.2186G>A |
| Protein | p.R729Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_175629.2 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| NM_022552.5 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| NM_175629 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_017003526.1 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_005264175.6 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_047443593.1 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_011532664.2 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| NM_022552 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_017003526.2 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_011532664 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_011532664.3 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_005264175 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| NM_022552.4 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_017003526 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| XM_005264175.5 | chr2:g.25240438C>T | c.2186G>A | p.R729Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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