FGFR2 V563L
Gene Variant Detail

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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 results in growth-factor independence in a high-throughput cell culture assay (PMID: 41361008) and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 31109923), 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 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
NM_001144917 chr10:g.121487376C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_017015922 chr10:g.121488077C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_006717711 chr10:g.121488083C>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_001144913.1 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_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
XM_024447890.2 chr10:g.121488083C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
XM_024447890.1 chr10:g.121488083C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_022970 chr10:g.121496711C>G c.1687G>C p.V563L RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121487376C>G c.1687G>C p.V563L RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
FGFR2 V563L gain of function - predicted