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Gene | FGFR2 |
Variant | V564F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 V564F (also referred to as V565F from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564F results in increased kinase activity in cell culture (PMID: 25169980) and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 28034880), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V564F |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496705C>A |
cDNA | c.1690G>T |
Protein | p.V564F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121496705C>A | c.1690G>T | p.V564F | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121487374_121487376delTACinsAAA | c.1690_1692delGTAinsTTT | p.V564F | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487374_121487376delGTAinsTTT | c.1690_1692delGTAinsTTT | p.V564F | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488075_121488077delGTAinsTTT | c.1690_1692delGTAinsTTT | p.V564F | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496705C>A | c.1690G>T | p.V564F | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488075_121488077delGTAinsTTT | c.1690_1692delGTAinsTTT | p.V564F | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496705C>A | c.1690G>T | p.V564F | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121487374_121487376delGTAinsTTT | c.1690_1692delGTAinsTTT | p.V564F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 V564F | Advanced Solid Tumor | resistant | Fexagratinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, transformed cells over expressing FGFR2 V564F were resistant to AZD4547 in culture and in cell line xenograft models (PMID: 25169980). | 25169980 |
FGFR2 V564F | Advanced Solid Tumor | resistant | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing FGFR2 V564F were resistant to Truseltiq (infigratinib) in culture (PMID: 25349422). | 25349422 |
FGFR2 V564F | Advanced Solid Tumor | resistant | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells over expressing FGFR2 V564F were resistant to Truseltiq (infigratinib) in culture (PMID: 28034880). | 28034880 |
FGFR2 V564F | Advanced Solid Tumor | sensitive | Zoligratinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Debio 1347 inhibited proliferation of transformed cells over expressing FGFR2 V564F in culture and inhibited tumor growth in cell line xenograft models (PMID: 25169980). | 25169980 |
FGFR2 V564F | Advanced Solid Tumor | predicted - resistant | Erdafitinib | Preclinical - Biochemical | Actionable | In a preclinical study, Balversa (erdafitinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). | 37270847 |
FGFR2 V564F | Advanced Solid Tumor | predicted - resistant | Futibatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Lytgobi (futibatinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). | 37270847 |
FGFR2 V564F | Advanced Solid Tumor | resistant | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, a cell line expressing FGFR2 V564F was resistant to Pemazyre (pemigatinib) in a kinase assay and in culture (PMID: 36698015). | 36698015 |
FGFR2 V564F | Advanced Solid Tumor | resistant | Pemigatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Pemazyre (pemigatinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). | 37270847 |
FGFR2 V564F | Advanced Solid Tumor | predicted - sensitive | Lirafugratinib | Preclinical - Biochemical | Actionable | In a preclinical study, Lirafugratinib treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). | 37270847 |