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FLT3 Y597_K602dup - Gene Variant Detail

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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

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Transcript NM_004119.3
gDNA chr13:g.28034113_28034130
cDNA c.1789_1806
Protein p.Y597_K602
Source Database RefSeq
Genome Build GRCh38/hg38

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