Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FLT3 |
Variant | S451F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 S451F lies within the extracellular domain of the Flt3 protein (UniProt.org). S541F results in constitutive phosphorylation of Flt3, activation of Erk signaling, and is transforming in culture (PMID: 18068628). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 S451F |
Transcript | NM_004119.3 |
gDNA | chr13:g.28036001G>A |
cDNA | c.1352C>T |
Protein | p.S451F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017020486.1 | chr13:g.28035524G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
XM_017020486 | chr13:g.28035524G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
XM_017020486.2 | chr13:g.28035524G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28036001G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28036001G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28036001G>A | c.1352C>T | p.S451F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 S451F | Advanced Solid Tumor | decreased response | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing FLT3 S451F demonstrated decreased sensitivity to inhibition of FLT3 phosphorylation and growth by Rydapt (midostaurin) in culture, when compared to cells expressing other FLT3 activating mutations (PMID: 18068628). | 18068628 |