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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 (PMID: 31943770), and therefore, is predicted to lead to a gain of Flt3 protein function. |
| 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_004119.2 | chr13:g.28018483T>G | c.2525A>C | p.Y842S | RefSeq | GRCh38/hg38 |
| NM_004119 | 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 | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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