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Gene | FGFR2 |
Variant | I548Wfs*8 |
Impact List | frameshift |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 I548Wfs*8 indicates a shift in the reading frame starting at amino acid 548 and terminating 8 residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). I548Wfs*8 results in increased proliferation and invasion in cultured cells (PMID: 37964396), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 I548Wfs*8 |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498525_121498526insTTCGGGGGGGGGGGGGGGCA |
cDNA | c.1641_1642insTGCCCCCCCCCCCCCCCGAA |
Protein | p.I548Wfs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121498525_121498526insTTCGGGGGGGGGGGGGGGCA | c.1641_1642insTGCCCCCCCCCCCCCCCGAA | p.I548Wfs*8 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 I548Wfs*8 | cholangiocarcinoma | sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) decreased viability of a cholangiocarcinoma cell line expressing FGFR2 I548Wfs*8 in culture (PMID: 37964396). | 37964396 |