DNMT3A R635W
Gene Variant Detail

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Gene DNMT3A
Variant R635W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R635W lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R635W (corresponding to R631W in mouse) confers a loss of function on Dnmt3a as indicated by loss of methylation activity, failure to be activated by Dnmt3L, failure to bind DNA in in vitro assays (PMID: 31861499), reduced TDG activity in an in vitro assay (Blood (2016) 128 (22): 1076), and decreased Dnmt3a stability and reduced methyltransferase activity in cell culture (PMID: 34429321).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R635W

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Transcript NM_022552.5
gDNA chr2:g.25243931G>A
cDNA c.1903C>T
Protein p.R635W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532664 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_017003526 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_005264175 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_175629 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_022552 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25243931G>A c.1903C>T p.R635W RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25243931G>A c.1903C>T p.R635W 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

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  • 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