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Gene DNMT3A
Variant P904L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions DNMT3A P904L lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P904L results in decreased methylation activity in an in vitro assay and failure to rescue mCA accumulation in cell culture (PMID: 33238114), increases methylation of non-CpG substrates but reduced methylation of CpG substrates in in vitro assays (PMID: 30705090), and leads to dysregulation of DNA methylation and gene expression, obesity, overgrowth, and neuronal defects in a transgenic mouse model expressing the corresponding mouse isoform (P900L) (PMID: 37952155).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A P904L

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Transcript NM_022552.5
gDNA chr2:g.25234307G>A
cDNA c.2711C>T
Protein p.P904L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005264175 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
XM_017003526 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_175629 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25234307G>A c.2711C>T p.P904L RefSeq GRCh38/hg38
NM_022552 chr2:g.25234307G>A c.2711C>T p.P904L 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