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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 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), and results in hypomethylation, cytokine-independent growth, increased cell proliferation and impaired differentiation in cultured cells (PMID: 31164355, PMID: 32015320).
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
XM_017003526.1 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
NM_175629 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
NM_175629.2 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_175629.2 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 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_022552.5 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

Filtering

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