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Gene | FGFR2 |
Variant | C492F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 C492F (corresponds to C491F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). C492F results in reduced Frs2 and Erk phosphorylation in the context of an FGFR2 fusion and confers resistance to FGFR inhibitors in the context of FGFR2-PHGDH in culture (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 C492F |
Transcript | NM_022970.4 |
gDNA | chr10:g.121500915C>A |
cDNA | c.1475G>T |
Protein | p.C492F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.4 | chr10:g.121500915C>A | c.1475G>T | p.C492F | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121500915C>A | c.1475G>T | p.C492F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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