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Gene | FGFR2 |
Variant | L560F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 L560F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L560F results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), 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 L560F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496717G>A |
cDNA | c.1678C>T |
Protein | p.L560F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121496717G>A | c.1678C>T | p.L560F | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487386_121487388delCTGinsTTT | c.1678_1680delCTGinsTTT | p.L560F | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496717G>A | c.1678C>T | p.L560F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 L560F | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |