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Gene FGFR2
Variant D650L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 D650L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650L demonstrates increased kinase activity compared to wild-type Fgfr2 in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 D650L

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Transcript NM_000141.5
gDNA chr10:g.121488028_121488029delGAinsCT
cDNA c.1948_1949delGAinsCT
Protein p.D650L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144919.1 chr10:g.121483786_121483787delGAinsCT c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121483786_121483787delGAinsCT c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121488028_121488029delGAinsCT c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38
NM_000141 chr10:g.121488028_121488029delTCinsAG c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38
NM_001144919 chr10:g.121483786_121483787delTCinsAG c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121488028_121488029delGAinsCT c.1948_1949delGAinsCT p.D650L RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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