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Gene | FLT3 |
Variant | S652G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 S652G lies within the protein kinase domain of the Flt3 protein (UniProt.org). S652G has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2022). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon16 FLT3 S652G |
Transcript | NM_004119.2 |
gDNA | chr13:g.28028277T>C |
cDNA | c.1954A>G |
Protein | p.S652G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28028277T>C | c.1954A>G | p.S652G | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28028277T>C | c.1954A>G | p.S652G | RefSeq | GRCh38/hg38 |
XM_017020486.1 | chr13:g.28027125T>C | c.1954A>G | p.S652G | RefSeq | GRCh38/hg38 |
XM_017020486 | chr13:g.28027125T>C | c.1954A>G | p.S652G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 exon 14 ins FLT3 S652G | leukemia | predicted - resistant | Pexidartinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with FLT3-ITD positive leukemia initially responded to Pexidartinib (PLX3397), but experienced relapse after emergence of a FLT3 S652G mutation on the same allele as FLT3-ITD (PMID: 25847190). | 25847190 |