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Gene | FLT3 |
Variant | Y597_K602dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 Y597_K602dup indicates the insertion of six duplicate amino acids, tyrosine (Y)-597 through lysine (K)-602, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). Y597_K602dup has not been biochemically characterized, but can be predicted to lead to a gain of Flt3 protein function 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 Y597_K602dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y597_K602dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034113_28034130 |
cDNA | c.1789_1806 |
Protein | p.Y597_K602 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28034113_28034130 | c.1789_1806 | p.Y597_K602 | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATA | c.1807_1808insATGAGTATGACCTTAAGT | p.Y597_K602dup | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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