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| Gene | DNMT3A |
| Variant | Q485H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | DNMT3A Q485H lies within the ADD domain of the Dnmt3a protein (UniProt.org). Q485H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
DNMT3A mutant DNMT3A Q485H |
| Transcript | NM_022552.5 |
| gDNA | chr2:g.25246039C>A |
| cDNA | c.1455G>T |
| Protein | p.Q485H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005264175.5 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532664.3 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_005264175.6 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_022552 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_017003526.1 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532664 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_017003526.2 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_022552.4 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532662 | chr2:g.25244605C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532664.2 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_005264175 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532662.3 | chr2:g.25244605C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_011532662.2 | chr2:g.25244605C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_022552.5 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| NM_175629 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_017003526 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| XM_047443593.1 | chr2:g.25246039C>A | c.1455G>T | p.Q485H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| DNMT3A Q485H | unknown |