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Gene FGFR2
Variant L617F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 L617F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). The functional effect of L617F is conflicting, as it results in enhanced Fgfr2 autophosphorylation, activation of Runx2 (PMID: 23913723), and increased substrate phosphorylation (PMID: 28166054), but activation of Mapk/Erk was similar to wild-type Fgfr2 in cell culture (PMID: 23913723) and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 L617F

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Transcript NM_000141.5
gDNA chr10:g.121496544C>A
cDNA c.1851G>T
Protein p.L617F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015925.3 chr10:g.121485445_121485447delCTGinsTTT c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485445_121485447delCAGinsAAA c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496544C>A c.1851G>T p.L617F RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496544C>A c.1851G>T p.L617F RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121485456G>A c.1849C>T p.L617F RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121483803_121485396delCTGinsTTT c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121485456G>A c.1849C>T p.L617F RefSeq GRCh38/hg38
NM_000141 chr10:g.121496544C>A c.1851G>T p.L617F RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121483803_121485396delCTGinsTTT c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38
XM_006717712 chr10:g.121485456G>A c.1849C>T p.L617F RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485445_121485447delCTGinsTTT c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38
NM_001144916 chr10:g.121483803_121485396delCAGinsAAA c.1849_1851delCTGinsTTT p.L617F RefSeq GRCh38/hg38

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