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Gene | FGFR2 |
Variant | E566A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 E566A (corresponds to E565A in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E566A results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937, PMID: 28166054) and is also associated with resistance to FGFR inhibitors (PMID: 31109923). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E566A |
Transcript | NM_022970.4 |
gDNA | chr10:g.121496701T>G |
cDNA | c.1697A>C |
Protein | p.E566A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.4 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488070T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488070T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 fusion FGFR2 E566A | intrahepatic cholangiocarcinoma | decreased response | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 E566A had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 E566A | intrahepatic cholangiocarcinoma | decreased response | Debio 1347 | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 E566A had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 E566A | intrahepatic cholangiocarcinoma | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 E566A were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). | 31109923 |