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Gene | FLT3 |
Variant | F594_W603dup |
Impact List | duplication |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 F594_W603dup indicates the insertion of eight duplicate amino acids, aspartic acid (D)-593 through tryptophan (W)-603, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). FLT3 F594_W603dup 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 F594_W603dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F594_W603dup |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034110_28034139 |
cDNA | c.1780_1809 |
Protein | p.F594_W603 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |