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Gene | FLT3 |
Variant | A848P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FLT3 A848P lies within the protein kinase domain of the Flt3 protein (UniProt.org). A848P results in growth factor independent cell proliferation, Flt3 phosphorylation, and Erk activation in culture (Blood; 2009, 114;22, Abstract #3982), and has been demonstrated to confer resistance to FLT3 inhibitors in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations in culture (PMID: 20520641), 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 A848P FLT3 mutant FLT3 exon21 FLT3 A848P |
Transcript | NM_004119.3 |
gDNA | chr13:g.28015701C>G |
cDNA | c.2542G>C |
Protein | p.A848P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28015701C>G | c.2542G>C | p.A848P | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28015701C>G | c.2542G>C | p.A848P | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28015701C>G | c.2542G>C | p.A848P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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