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Gene | FLT3 |
Variant | A680V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 A680V lies within the N-terminal kinase domain of the Flt3 protein (PMID: 15976757). A680V results in autophosphorylation of Flt3 (ASH, 2015, abstract no. 87) and leads to IL-3 independent growth in culture (PMID: 33563661). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 A680V FLT3 mutant FLT3 exon16 FLT3 A680V |
Transcript | NM_004119.3 |
gDNA | chr13:g.28028192G>A |
cDNA | c.2039C>T |
Protein | p.A680V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28028192G>A | c.2039C>T | p.A680V | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28028192G>A | c.2039C>T | p.A680V | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28028192G>A | c.2039C>T | p.A680V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 A680V | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing FLT3 A680V were sensitive to treatment with Xospata (gilteritinib) in culture, demonstrating decreased cell viability and decreased Flt3 phosphorylation (PMID: 33563661). | 33563661 |