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Gene DNMT3A
Variant R729A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R729A lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R729A disrupts Dnmt3a tetramer formation and leads to reduced catalytic activity in in vitro assays (PMID: 21979949).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R729A

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Transcript NM_022552.5
gDNA chr2:g.25240438_25240439delCGinsGC
cDNA c.2185_2186delCGinsGC
Protein p.R729A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022552.5 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240438_25240439delCGinsGC c.2185_2186delCGinsGC p.R729A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

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