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Gene FGFR2
Variant R625Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR2 R625Q lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R625Q results in decreased proliferation compared to wild-type Fgfr2 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 inact mut FGFR2 R625Q

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Transcript NM_000141.5
gDNA chr10:g.121488103C>T
cDNA c.1874G>A
Protein p.R625Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015924.2 chr10:g.121485428_121485429delAGinsCA c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121488103C>T c.1874G>A p.R625Q RefSeq GRCh38/hg38
XM_017015924 chr10:g.121485428_121485429delCTinsTG c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121483789_121483790delAGinsCA c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38
NM_000141 chr10:g.121488103C>T c.1874G>A p.R625Q RefSeq GRCh38/hg38
NM_001144914 chr10:g.121483789_121483790delCTinsTG c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121483789_121483790delAGinsCA c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121488103C>T c.1874G>A p.R625Q RefSeq GRCh38/hg38
XM_017015924.3 chr10:g.121485428_121485429delAGinsCA c.1873_1874delAGinsCA p.R625Q RefSeq GRCh38/hg38

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