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Gene | FGFR2 |
Variant | V564I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 V564I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564I confers a gain of function to the Fgfr2 protein as indicated by increased Fgfr2 kinase activity (PMID: 25169980), results in FGF2-independent phosphorylation of Akt and Erk in cell culture (PMID: 29540482), and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V564I |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496705C>T |
cDNA | c.1690G>A |
Protein | p.V564I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488077C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496705C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488077C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121487376C>T | c.1690G>A | p.V564I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V564I | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Biochemical | Actionable | In a preclinical study, Truseltiq (infigratinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564I (PMID: 37270847). | 37270847 |
FGFR2 V564I | Advanced Solid Tumor | resistant | Zoligratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 did not inhibit Fgfr2 phosphorylation in transformed cells over expressing FGFR2 V564I in culture (PMID: 25169980). | 25169980 |
FGFR2 V564I | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Pemazyre (pemigatinib) treatment inhibited activity of FGFR2 V564I in a kinase assay (PMID: 36698015). | 36698015 |