DNMT3A M880V
Gene Variant Detail

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Gene DNMT3A
Variant M880V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A M880V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). M880V results in protein stability similar to wild-type Dnmt3a but 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 M880V

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Transcript NM_022552.5
gDNA chr2:g.25234380T>C
cDNA c.2638A>G
Protein p.M880V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.25234380T>C c.2638A>G p.M880V RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25234380T>C c.2638A>G p.M880V RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25234380T>C c.2638A>G p.M880V RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25234380T>C c.2638A>G p.M880V 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")

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