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Gene | FGFR2 |
Variant | L618F |
Impact List | missense |
Protein Effect | unknown |
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 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), but has not been individually characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 L618F |
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_001144913.1 | chr10:g.121496544C>A | c.1854G>T | p.L618F | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 L618F | unknown | |
FGFR2 H167_N173del FGFR2 L618F | ||
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | ||
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K |