DNMT3A K299I - Gene Variant Detail

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Gene DNMT3A
Variant K299I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A K299I lies within the PWWP domain of the Dnmt3a protein (UniProt.org). K299I (corresponds to K295I in mouse) results in hypermethylation of target DNA in culture (PMID: 29740169, PMID: 33986537), but decreased binding with H3K36me2/3, loss of DNA binding and interaction with oligonucleosomes, and loss of localization to heterochromatin in cultured cells in another study (PMID: 31634469), and therefore, its effect on Dnmt3a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A K299I

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Transcript NM_022552.5
gDNA chr2:g.25247709T>A
cDNA c.896A>T
Protein p.K299I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047443593.1 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
NM_175629 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
NM_022552 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_011532664 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_047443594.1 chr2:g.25246212_25246213delAGinsTC c.896_897delAGinsTC p.K299I RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_005264175 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247709T>A c.896A>T p.K299I RefSeq GRCh38/hg38
XM_017003526 chr2:g.25247709T>A c.896A>T p.K299I 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