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Gene | FLT3 |
Variant | C807S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 C807S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C807S does not alter kinase activity or dimerization but results in decreased transformation and phosphorylation of Flt3, Stat5, and Erk in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon20 FLT3 C807S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018589A>T |
cDNA | c.2419T>A |
Protein | p.C807S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28018589A>T | c.2419T>A | p.C807S | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28018589A>T | c.2419T>A | p.C807S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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