DNMT3A E733A
Gene Variant Detail

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Gene DNMT3A
Variant E733A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A E733A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). E733A decreases Dnmt3a protein stability in culture (PMID: 34429321), disrupts Dnmt3a tetramer formation (PMID: 21979949), and leads to reduced catalytic activity in in vitro assays (PMID: 36528185, PMID: 21979949), but results in methyltransferase activity similar to wild-type Dnmt3a in culture (PMID: 34429321), and therefore, its effect on Dnmt3a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A E733A

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Transcript NM_022552.5
gDNA chr2:g.25240426T>G
cDNA c.2198A>C
Protein p.E733A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240426T>G c.2198A>C p.E733A RefSeq GRCh38/hg38

Filtering

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  • 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

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