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Gene | DNMT3A |
Variant | R885A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | DNMT3A R885A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R885A confers a loss of function to Dnmt3a as demonstrated by loss of activity in in vitro assays (PMID: 22722925, PMID: 31582562) and decreased oligomer formation in culture (PMID: 31582562). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A inact mut DNMT3A R885A |
Transcript | NM_022552.5 |
gDNA | chr2:g.25234364_25234365delAGinsGC |
cDNA | c.2653_2654delAGinsGC |
Protein | p.R885A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017003526.1 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25234364_25234365delCTinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25234364_25234365delCTinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25234364_25234365delCTinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25234364_25234365delCTinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25234364_25234365delAGinsGC | c.2653_2654delAGinsGC | p.R885A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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