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Gene | FLT3 |
Variant | N841I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 N841I lies within the protein kinase domain of the Flt3 protein (UniProt.org). N841I results in constitutive phosphorylation of Flt3, activation of Akt and Mapk signalling pathways, leading to leukemogenicity in animal models (PMID: 15178581). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 N841I FLT3 mutant FLT3 exon20 FLT3 N841I |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018486T>A |
cDNA | c.2522A>T |
Protein | p.N841I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28018486T>A | c.2522A>T | p.N841I | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28018486T>A | c.2522A>T | p.N841I | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018486T>A | c.2522A>T | p.N841I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 N841I | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) resulted in reduced cell viability in transformed cells expressing FLT3 N841I in culture (PMID: 32040554). | 32040554 |