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Gene | FGFR2 |
Variant | L550F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 L550F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L550F has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), 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 L550F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498519G>A |
cDNA | c.1648C>T |
Protein | p.L550F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121498519G>A | c.1648C>T | p.L550F | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487418G>A | c.1648C>T | p.L550F | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487418G>A | c.1648C>T | p.L550F | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498519G>A | c.1648C>T | p.L550F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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