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Gene | FLT3 |
Variant | F590_Y591delinsGD |
Impact List | indel |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 F590_Y591delinsGD results in a deletion of 2 amino acids in the juxtamembrane domain of the Flt3 protein from amino acids 590 to 591, combined with the insertion of a glycine (G) and an aspartic acid (D) at the same site (PMID: 11756186). F590_Y591delinsGD results in constitutive phosphorylation of Flt3, activation of Stat5 signaling, and transformation of cells in culture (PMID: 16410449). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 F590_Y591delinsGD FLT3 mutant FLT3 exon14 FLT3 F590_Y591delinsGD |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034146_28034151delinsGTCACC |
cDNA | c.1768_1773delinsGGTGAC |
Protein | p.F590_Y591delinsGD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |