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Gene DNMT3A
Variant L723fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions DNMT3A L723fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 723 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). L723fs confers a loss of function to the Dnmt3a protein as demonstrated by failure to dimerize with wild-type Dnmt3a and loss of methyltransferase activity in in vitro assays (PMID: 28872462).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A L723fs

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Transcript NM_022552.5
gDNA chr2:g.(25240646_25240647)
cDNA c.(2167_2166)
Protein p.L723fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526.2 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_022552.4 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_005264175 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_017003526 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_022552.5 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_022552 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_011532664 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
NM_175629 chr2:g.(25240646_25240647) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38
XM_047443594.1 chr2:g.(25234371_25234372) c.(2167_2166) p.L723fs RefSeq GRCh38/hg38

Filtering

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  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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