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Gene DNMT3A
Variant W893S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A W893S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). W893S results in reduced methylation of CpG substrates relative to wild-type protein, but increased methylation of non-CpG substrates in in vitro assays (PMID: 30705090), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A W893S

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Transcript NM_022552.5
gDNA chr2:g.25234340C>G
cDNA c.2678G>C
Protein p.W893S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264175.6 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_175629 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
XM_017003526 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_022552 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
XM_005264175 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234340C>G c.2678G>C p.W893S RefSeq GRCh38/hg38

Filtering

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Sorting

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