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Gene DNMT3A
Variant G699fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A G699fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 699 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G699fs has not been characterized, however, due to the effects of other truncation mutations downstream of G699 (PMID: 28872462, 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 G699fs

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Transcript NM_022552.5
gDNA chr2:g.(25240718_25240719)
cDNA c.(2095_2094)
Protein p.G699fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047443593.1 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
NM_022552.4 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
NM_175629.2 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
NM_022552.5 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.(25240718_25240719) c.(2095_2094) p.G699fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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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 Protein Effect Treatment Approaches
DNMT3A G699fs loss of function - predicted