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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 |
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 | 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_017003526 | 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 |
XM_011532664.2 | 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_011532664 | 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 |
NM_022552.5 | 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_005264175 | 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 |
NM_022552.4 | 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_175629.2 | chr2:g.(25240373_25240374) | c.(2251_2250) | p.F751fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
DNMT3A F751fs | loss of function - predicted |