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Gene DNMT3A
Variant P709S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A P709S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P709S (corresponds to P705S in mouse) results in impaired global methylation and both decreased interaction with and inhibition of wild-type Dnmt3a in cell culture (PMID: 32856987), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A P709S

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Transcript NM_022552.5
gDNA chr2:g.25240688G>A
cDNA c.2125C>T
Protein p.P709S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552.4 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240688G>A c.2125C>T p.P709S RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries