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Gene | FLT3 |
Variant | Y599_E604dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 Y599_E604dup indicates the insertion of six duplicate amino acids, tyrosine (Y)-599 through glutamic acid (E)-604, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). Y599_E604dup 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 Y599_E604dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_E604dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034107_28034124 |
cDNA | c.1795_1812 |
Protein | p.Y599_E604 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28034112_28034113insCTTAAGGTCATACTCCCA | c.1813_1814insATGACCTTAAGTGGGAGT | p.Y599_E604dup | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034107_28034124 | c.1795_1812 | p.Y599_E604 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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