DNMT3A E30A - Gene Variant Detail

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Gene DNMT3A
Variant E30A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A E30A does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). E30A does not lead to Dnmt3a instability but results in decreased methyltransferase activity in cell culture (PMID: 34429321), 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 E30A

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Transcript NM_022552.5
gDNA chr2:g.25300227T>G
cDNA c.89A>C
Protein p.E30A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175629 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_005264175 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_011532664 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_001320892.1 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_017003526 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175630.1 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175630.1 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_001320892 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_001320892.2 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175630 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25300227T>G c.89A>C p.E30A RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25300227T>G c.89A>C p.E30A 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 )
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  • 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