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Gene | FLT3 |
Variant | Y842S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 Y842S lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). Y842S has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), and results in increased catalytic activity and autophosphorylation of the Flt3 kinase domain in in vitro assays, and therefore, is predicted to lead to a gain of Flt3 protein function (PMID: 31943770). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 Y842S FLT3 mutant FLT3 exon20 FLT3 Y842S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018483T>G |
cDNA | c.2525A>C |
Protein | p.Y842S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28018483T>G | c.2525A>C | p.Y842S | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28018483T>G | c.2525A>C | p.Y842S | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018483T>G | c.2525A>C | p.Y842S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FLT3 Y842S | gain of function - predicted | |
FLT3 exon 14 ins FLT3 Y842S | ||
FLT3 exon 14 ins FLT3 F691L FLT3 Y842S |