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| Gene | FLT3 |
| Variant | S585_F594dup |
| Impact List | duplication |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 S585_F594dup indicates the insertion of ten duplicate amino acids, serine (S)-585 through phenylalanine (F)-594, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). S585_F594dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 S585_F594dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 S585_F594dup |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034137_28034166 |
| cDNA | c.1753_1782 |
| Protein | p.S585_F594 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.3 | chr13:g.28034137_28034166 | c.1753_1782 | p.S585_F594 | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034136_28034137insAAAGTCTACATAAAAATACTCGTTGTCGCT | c.1784_1785insCGACAACGAGTATTTTTATGTAGACTTTAG | p.S585_F594dup | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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