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Gene | DNMT3A |
Variant | F772A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | DNMT3A F772A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F772A demonstrates higher catalytic activity compared to wild-type protein in an in vitro assay (PMID: 36528185), and therefore, is predicted to lead to a gain of Dnmt3a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A act mut DNMT3A F772A |
Transcript | NM_022552.5 |
gDNA | chr2:g.25240309_25240310delTTinsGC |
cDNA | c.2314_2315delTTinsGC |
Protein | p.F772A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264175.6 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25240309_25240310delTTinsGC | c.2314_2315delTTinsGC | p.F772A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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