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Gene DNMT3A
Variant V716D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A V716D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V716D results in decreased Dnmt3a enzymatic activity, reduced cytosine methylation in the presence of wild-type Dnmt3a, and cytokine-independent growth in cell culture (PMID: 29414941).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A V716D

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Transcript NM_022552.5
gDNA chr2:g.25240666A>T
cDNA c.2147T>A
Protein p.V716D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_011532664 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_005264175 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_175629 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
NM_022552 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240666A>T c.2147T>A p.V716D RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25240666A>T c.2147T>A p.V716D 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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