DNMT3A R882H - Gene Variant Detail

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Gene DNMT3A
Variant R882H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R882H lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R882H results in protein stability similar to wild-type Dnmt3a in culture (PMID: 34429321), but disrupts the tetramerization ability of the Dnmt3a protein, resulting in reduced DNA binding affinity and altered catalytic activity in in vitro assays (PMID: 22722925), disrupts Tp53 inhibition of methylation (PMID: 31640986), results in hypomethylation, cytokine-independent growth, increased cell proliferation and impaired differentiation in cultured cells (PMID: 31164355, PMID: 32015320), and decreased methylation activity in cell culture (PMID: 34429321).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R882H

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Transcript NM_022552.5
gDNA chr2:g.25234373C>T
cDNA c.2645G>A
Protein p.R882H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
NM_175629 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_005264175 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_017003526 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
NM_022552 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234373C>T c.2645G>A p.R882H RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25234373C>T c.2645G>A p.R882H 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 )
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  • 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