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Gene FGFR2
Variant V563L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V563L (corresponds to V562L in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V563L is predicted to confer a gain of function to the Fgfr2 protein as indicated by increased Fgfr2 kinase activity in cell culture, and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980, PMID: 31109923).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 V563L

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Transcript NM_001144913.1
gDNA chr10:g.121496711C>G
cDNA c.1687G>C
Protein p.V563L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.3 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_024447888.1 chr10:g.121488077C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_024447890.1 chr10:g.121488083C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_017015922 chr10:g.121488077C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_024447888.2 chr10:g.121488077C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_024447890.2 chr10:g.121488083C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_006717711 chr10:g.121488083C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121487376C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_022970 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144917 chr10:g.121487376C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121487376C>G c.1687G>C p.V563L RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References