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Gene | FLT3 |
Variant | N676S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 N676S lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676S has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 15374944, PMID: 31790499), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
FLT3 mutant FLT3 exon16 FLT3 N676S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28028204T>C |
cDNA | c.2027A>G |
Protein | p.N676S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.3 | chr13:g.28028204T>C | c.2027A>G | p.N676S | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28028204T>C | c.2027A>G | p.N676S | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28028204T>C | c.2027A>G | p.N676S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 exon 14 ins FLT3 N676S | Advanced Solid Tumor | resistant | Pexidartinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FLT3-ITD with FLT3 N676S were resistant to PLX3397 in culture (PMID: 25847190). | 25847190 |
FLT3 exon 14 ins FLT3 N676S | myeloid leukemia | resistant | A-419259 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed myeloid leukemia cells co-expressing FLT-ITD and FLT3 N676S demonstrated resistance to A-419259 treatment in culture (PMID: 31790499). | 31790499 |
FLT3 exon 14 ins FLT3 N676S FLT3 F691L | Advanced Solid Tumor | resistant | Pexidartinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing a compound FLT3-ITD/F691L/N676S mutation were resistant to PLX3397 in culture (PMID: 25847190). | 25847190 |