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Gene DNMT3A
Variant E240fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A E240fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 240 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). E240fs has not been characterized, however, due to the effects of other truncation mutations downstream of E240 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A E240fs

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Transcript NM_022552.5
gDNA chr2:g.(25248174_25248175)
cDNA c.(718_717)
Protein p.E240fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
NM_022552.5 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443597.1 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_017003527.2 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443599.1 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
NM_001375819.1 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443598.1 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_011532667.4 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
NM_001320893.1 chr2:g.(25246725_25246726) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443596.1 chr2:g.(25246202_25246203) c.(718_717) p.E240fs RefSeq GRCh38/hg38
NM_022552.4 chr2:g.(25248174_25248175) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_047443594.1 chr2:g.(25246701_25246702) c.(718_717) p.E240fs RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.(25248174_25248175) c.(718_717) p.E240fs 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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  • 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