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Gene DNMT3A
Variant S714C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A S714C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). S714C demonstrates reduced methylation of both CpG and non-CpG substrates in an in vitro assay, decreased global methylation in cultured embryonic stem cells (PMID: 30705090), and decreased methylation activity in a chimeric Dnmt3a catalytic domain construct in an in vitro assay (PMID: 33826797).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A S714C

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Transcript NM_022552.5
gDNA chr2:g.25240672G>C
cDNA c.2141C>G
Protein p.S714C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
NM_022552 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_011532664 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
NM_175629 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_005264175 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_017003526 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240672G>C c.2141C>G p.S714C RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25240672G>C c.2141C>G p.S714C 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References