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Gene FGFR2
Variant V564L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V564L (also referred to as V565L from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564L results in increased Fgfr2 kinase activity in cell culture and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980), 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 V564L

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Transcript NM_000141.5
gDNA chr10:g.121496705C>G
cDNA c.1690G>C
Protein p.V564L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 V564L 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 V564L (PMID: 37270847). 37270847
FGFR2 V564L 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 V564L in culture (PMID: 25169980). 25169980
FGFR2 V564L invasive ductal carcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a clinical case study, FGFR2 V564L was identified at progression on Pemazyre (pemigatinib) treatment in a patient with metastatic ERBB2 (HER2)-negative invasive ductal carcinoma, who previously also harbored FGFR2-SHTN1 (reported as FGFR2-KIAA1598) (PMID: 37437229). 37437229
FGFR2 V564L Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Biochemical Actionable In a preclinical study, Pemazyre (pemigatinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564L (PMID: 37270847). 37270847
FGFR2 V564L Advanced Solid Tumor predicted - sensitive Lirafugratinib Preclinical - Biochemical Actionable In a preclinical study, Lirafugratinib treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564L (PMID: 37270847). 37270847