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| Gene | DNMT3A |
| Variant | R771A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | DNMT3A R771A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771A disrupts Dnmt3a tetramer formation and leads to reduced catalytic activity in in vitro assays (PMID: 21979949). |
| Associated Drug Resistance | |
| Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A R771A |
| Transcript | NM_022552.5 |
| gDNA | chr2:g.25240312_25240313delCGinsGC |
| cDNA | c.2311_2312delCGinsGC |
| Protein | p.R771A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047443593.1 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| XM_017003526.2 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| XM_011532664.3 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| NM_022552.5 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| XM_005264175.6 | chr2:g.25240312_25240313delCGinsGC | c.2311_2312delCGinsGC | p.R771A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| DNMT3A R771A | loss of function |