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Gene FGFR2
Variant L618M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 L618M (corresponds to L617M in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L618M results in increased Fgfr2 kinase activity, enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597), and elevated kinase activity compared to wild-type Fgfr2 protein in substrate phosphorylation assays (PMID: 28166054).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L618M

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Transcript NM_022970.4
gDNA chr10:g.121496546A>T
cDNA c.1852T>A
Protein p.L618M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015925 chr10:g.121485444G>T c.1852C>A p.L618M RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485444G>T c.1852C>A p.L618M RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485444G>T c.1852C>A p.L618M RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_022970 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries