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Gene | FLT3 |
Variant | D593_D600dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 D593_D600dup indicates the insertion of eight duplicate amino acids, aspartic acid (D)-593 through aspartic acid (D)-600, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). FLT3 D593_D600dup 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 D593_D600dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 D593_D600dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034119_28034142 |
cDNA | c.1777_1800 |
Protein | p.D593_D600 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034119_28034142 | c.1777_1800 | p.D593_D600 | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034118_28034119insGTCATACTCATACTCCCTAAAGTC | c.1800_1801insGACTTTAGGGAGTATGAGTATGAC | p.D593_D600dup | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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