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FLT3 R595_L601dup - Gene Variant Detail

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Gene FLT3
Variant R595_L601dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions FLT3 R595_L601dup (also referred to as FLT3 L601_K602insREYEYDL) indicates the insertion of seven duplicate amino acids, arginine (R)-595 through leucine(L)-601, in the juxtamembrane domain of the Flt3 protein (PMID: 11756186). R595_L601dup results in constitutive phosphorylation of Flt3, activation of Stat5 and Erk signaling, transformation of cells in culture, and induction of myeloproliferative disorder in mouse models (PMID: 18068628, PMID: 11756186).
Associated Drug Resistance
Category Variants Paths

FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 R595_L601dup

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 R595_L601dup

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Transcript NM_004119.3
gDNA chr13:g.28034116_28034136
cDNA c.1783_1803
Protein p.R595_L601
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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