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Gene | FLT3 |
Variant | F590_D593delinsLY |
Impact List | indel |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 F590_D593delinsLY results in a deletion of four amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 593, combined with the insertion of a leucine (L) and a tyrosine (Y) at the same site (PMID: 11756186). F590_D593delinsLY confers a gain of function to Flt3 as demonstrated by increased Flt3 downstream signaling, decreased apoptosis, weak clonogenic growth, and cytokine-independent growth in cultured cells (PMID: 26012842). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 F590_D593delinsLY FLT3 mutant FLT3 exon14 FLT3 F590_D593delinsLY |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034140_28034151delinsATAAAG |
cDNA | c.1768_1779delinsCTTTAT |
Protein | p.F590_D593delinsLY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034140_28034151delinsATAAAG | c.1768_1779delinsCTTTAT | p.F590_D593delinsLY | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 F590_D593delinsLY | gain of function | FLT3 Inhibitor |