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Gene | FGFR2 |
Variant | K545del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 K545del results in the deletion of an amino acid in the protein kinase domain of the Fgfr2 protein at amino acid 545 (UniProt.org). K545del results in increased proliferation, migration, and invasion in 2 of 3 cell lines in culture (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 K545del |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498532_121498534delCTT |
cDNA | c.1635_1637delGAA |
Protein | p.K545del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121498532_121498534delCTT | c.1635_1637delGAA | p.K545del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 K545del | cholangiocarcinoma | no benefit | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) did not decrease viability of a cholangiocarcinoma cell line expressing FGFR2 K545del in culture (PMID: 37964396). | 37964396 |