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Gene | FLT3 |
Variant | I867S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 I867S lies within the protein kinase domain of the Flt3 protein (UniProt.org). I867S results in constitutive phosphorylation of Flt3 and activation of Akt signaling, leading to transformation of cultured cells (PMID: 24608088) |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 I867S FLT3 mutant FLT3 exon21 FLT3 I867S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28015643A>C |
cDNA | c.2600T>G |
Protein | p.I867S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28015643A>C | c.2600T>G | p.I867S | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28015643A>C | c.2600T>G | p.I867S | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28015643A>C | c.2600T>G | p.I867S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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