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Gene | FGFR2 |
Variant | E566G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 E566G (corresponds to E565G in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E566G results in increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E566G |
Transcript | NM_022970.4 |
gDNA | chr10:g.121496701T>C |
cDNA | c.1697A>G |
Protein | p.E566G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.4 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488070T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496701T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488070T>C | c.1697A>G | p.E566G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 E566G | Advanced Solid Tumor | resistant | Dovitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 E566G were resistant to treatment with Dovitinib (TKI258) (PMID: 23908597). | 23908597 |
FGFR2 E566G | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 E566G (PMID: 23908597). | 23908597 |
FGFR2 E566G | Advanced Solid Tumor | resistant | PD173074 | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 E566G were resistant to treatment with PD173074 (PMID: 23908597). | 23908597 |