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Gene | FLT3 |
Variant | V592G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 V592G lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). V592G results in constitutive phosphorylation of Flt3, activation of Stat3/5, Akt, and Erk signaling, and is transforming in culture (PMID: 18068628). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon14 FLT3 V592G FLT3 mutant FLT3 act mut FLT3 V592G |
Transcript | NM_004119.2 |
gDNA | chr13:g.28034144A>C |
cDNA | c.1775T>G |
Protein | p.V592G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034144A>C | c.1775T>G | p.V592G | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034144A>C | c.1775T>G | p.V592G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 V592G | Advanced Solid Tumor | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited FLT3-induced phosphorylation of ERK1/2 and reduced growth of transformed cells expressing FLT3 V592G in culture (PMID: 18068628). | 18068628 |