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Gene DNMT3A
Variant R882C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A R882C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R882C results in a loss of Dnmt3a protein function as indicated by genomic hypomethylation (PMID: 32015320, PMID: 31164355), which leads to altered gene expression profiles, reduced apoptosis, increased proliferation, cell transformation, and activation of hematopoietic stem cells in culture (PMID: 27010239, PMID: 31164355, PMID: 30245403, PMID: 32015320).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A R882C

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Transcript NM_022552.5
gDNA chr2:g.25234374G>A
cDNA c.2644C>T
Protein p.R882C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_017003526 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
NM_022552 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38
XM_005264175 chr2:g.25234374G>A c.2644C>T p.R882C RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries