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Gene DNMT3A
Variant F751fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A F751fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 751 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). F751fs has not been characterized, however, due to the effects of other truncation mutations downstream of F751 (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 F751fs

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Transcript NM_022552.5
gDNA chr2:g.(25240373_25240374)
cDNA c.(2251_2250)
Protein p.F751fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_175629.2 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_005264175 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
NM_022552.5 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_017003526 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
NM_175629 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_011532664 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
NM_022552 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs RefSeq GRCh38/hg38
NM_022552.4 chr2:g.(25240373_25240374) c.(2251_2250) p.F751fs 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")

Sorting

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