FGFR2 L618F
Gene Variant Detail

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Gene FGFR2
Variant L618F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L618F (corresponds to L617F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L618F (reported as L617F) results in growth factor-independent growth in a high-throughput cell culture assay (PMID: 41361008), in combination with FGFR2 H167_N173del results in constitutive FGFR2 signaling in culture (PMID: 33926920), and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 33926920, PMID: 37843855), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L618F

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Transcript NM_022970.4
gDNA chr10:g.121496544C>A
cDNA c.1854G>T
Protein p.L618F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.3 chr10:g.121496544C>A c.1854G>T p.L618F RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485442_121485444delCTGinsTTT c.1852_1854delCTGinsTTT p.L618F RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496544C>A c.1854G>T p.L618F RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496544C>A c.1854G>T p.L618F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References