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Gene DNMT3A
Variant Q615*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A Q615* results in a premature truncation of the Dnmt3a protein at amino acid 615 of 912 (UniProt.org). Q615* confers a loss of function to the Dnmt3a protein as demonstrated by impaired myelomonocytic cell differentiation, colony formation, and methyltransferase activity in cell culture (PMID: 26595813).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A Q615*

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Transcript NM_022552.5
gDNA chr2:g.25244163G>A
cDNA c.1843C>T
Protein p.Q615*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552.4 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_005264175 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_011532664 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
NM_175629 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_017003526 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38
NM_022552 chr2:g.25244163G>A c.1843C>T p.Q615* RefSeq GRCh38/hg38

Filtering

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  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References