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Gene | FGFR2 |
Variant | L551F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 L551F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551F has been associated with resistance to some FGFR inhibitors in cell culture (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 L551F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498516G>A |
cDNA | c.1651C>T |
Protein | p.L551F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717710.5 | chr10:g.121498574_121498576delCTGinsTTT | c.1651_1653delCTGinsTTT | p.L551F | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498516G>A | c.1651C>T | p.L551F | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498519G>A | c.1651C>T | p.L551F | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498519G>A | c.1651C>T | p.L551F | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498516G>A | c.1651C>T | p.L551F | RefSeq | GRCh38/hg38 |
XM_017015924.3 | chr10:g.121488038G>A | c.1651C>T | p.L551F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 L551F | unknown |