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Gene | DNMT3A |
Variant | F732del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | DNMT3A F732del results in the deletion of an amino acid in the SAM-dependent MTase C5-type domain of the Dnmt3a protein at amino acid 732 (UniProt.org). F732del has been identified in sequencing studies (PMID: 28411256, PMID: 38359296), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
DNMT3A mutant DNMT3A F732del |
Transcript | NM_022552.5 |
gDNA | chr2:g.25240428_25240430delAAA |
cDNA | c.2194_2196delTTT |
Protein | p.F732delF |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532663.2 | chr2:g.25239177_25239179delAGC | c.2196_2198delTGC | p.A733delA | RefSeq | GRCh38/hg38 |
XM_011532662.3 | chr2:g.25239196_25239198delTCA | c.2195_2197delATG | p.D732delD | RefSeq | GRCh38/hg38 |
XM_011532666.2 | chr2:g.25234294_25234296delATA | c.2195_2197delATT | p.Y732delY | RefSeq | GRCh38/hg38 |
XM_047443592.1 | chr2:g.25235812_25235814delCTC | c.2195_2197delGGA | p.R732delR | RefSeq | GRCh38/hg38 |
NM_001320893.1 | chr2:g.25234367_25234369delGCC | c.2194_2196delGCG | p.A732delA | RefSeq | GRCh38/hg38 |
XM_017003526.2 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_175629 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_011532666 | chr2:g.25234294_25234296delATA | c.2195_2197delATT | p.Y732delY | RefSeq | GRCh38/hg38 |
XM_011532664.3 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_005264175.6 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_005264175 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_011532662 | chr2:g.25239196_25239198delTCA | c.2195_2197delATG | p.D732delD | RefSeq | GRCh38/hg38 |
NM_022552 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_011532664 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_001320893 | chr2:g.25234367_25234369delGCC | c.2194_2196delGCG | p.A732delA | RefSeq | GRCh38/hg38 |
XM_011532663 | chr2:g.25239177_25239179delAGC | c.2196_2198delTGC | p.A733delA | RefSeq | GRCh38/hg38 |
XM_047443594.1 | chr2:g.25234342_25234344delTGA | c.2195_2197delCAT | p.S732delS | RefSeq | GRCh38/hg38 |
XM_011532662.2 | chr2:g.25239196_25239198delTCA | c.2195_2197delATG | p.D732delD | RefSeq | GRCh38/hg38 |
XM_011532664.2 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_022552.4 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_005264175.5 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_175629.2 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_047443593.1 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
NM_022552.5 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_017003526 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_017003526.1 | chr2:g.25240428_25240430delAAA | c.2194_2196delTTT | p.F732delF | RefSeq | GRCh38/hg38 |
XM_011532666.3 | chr2:g.25234294_25234296delATA | c.2195_2197delATT | p.Y732delY | RefSeq | GRCh38/hg38 |
NM_001320893.1 | chr2:g.25234367_25234369delGCC | c.2194_2196delGCG | p.A732delA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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