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Gene | FLT3 |
Variant | F691L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FLT3 F691L lies within the protein kinase domain of the Flt3 protein (PMID: 23430109). F691L has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 23430109, PMID: 19318574, PMID: 22504184, PMID: 29187377), but is not transforming in cell culture (PMID: 30651561), and therefore, is predicted to have no effect on Flt3 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon17 FLT3 F691L |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027224A>G |
cDNA | c.2071T>C |
Protein | p.F691L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28027224A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
XM_011535015 | chr13:g.28027167A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
XM_011535015.2 | chr13:g.28027167A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28027224A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28027224A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
XM_011535015.3 | chr13:g.28027167A>G | c.2071T>C | p.F691L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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