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Gene DNMT3A
Variant F752V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A F752V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F752V (corresponds to F748V in mouse) retains DNA-binding ability but results in loss of methylation activity in in vitro assays (PMID: 31861499), 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 F752V

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Transcript NM_022552.5
gDNA chr2:g.25240370A>C
cDNA c.2254T>G
Protein p.F752V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526.1 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_047443592.1 chr2:g.25235753A>C c.2254T>G p.F752V RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25240370A>C c.2254T>G p.F752V RefSeq GRCh38/hg38

Filtering

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  • 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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Sorting

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