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Gene DNMT3A
Variant R301W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R301W lies within the PWWP domain of the Dnmt3a protein (UniProt.org). R301W results in decreased DNA binding and loss of Dnmt3a catalytic activity in in vitro assays, and a corresponding mouse variant (R297W) results in hypomethylation in cell culture (PMID: 36266353).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R301W

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Transcript NM_022552.5
gDNA chr2:g.25247704G>A
cDNA c.901C>T
Protein p.R301W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047443593.1 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_005264175 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_022552 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_011532664 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_017003526 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25247704G>A c.901C>T p.R301W RefSeq GRCh38/hg38
NM_175629 chr2:g.25247704G>A c.901C>T p.R301W 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries