DNMT3A N838D
Gene Variant Detail

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Gene DNMT3A
Variant N838D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A N838D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). N838D results in protein stability similar to wild-type Dnmt3 in culture (PMID: 34429321), but reduced Dnmt3A enzymatic activity and decreased DNA methylation at commonly demethylated sites, cytokine-independent growth (PMID: 29414941), and decreased methyltransferase activity in culture (PMID: 34429321).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A N838D

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Transcript NM_022552.5
gDNA chr2:g.25235792T>C
cDNA c.2512A>G
Protein p.N838D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
XM_005264175 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_022552 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38
NM_175629 chr2:g.25235792T>C c.2512A>G p.N838D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
DNMT3A N838D loss of function