Gene Variant Detail

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Gene FGFR2
Variant K642R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 K642R (corresponds to K641R in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K642R confers a gain of function to the Fgfr2 protein, as demonstrated by increased autophosphorylation, increased phosphorylation of FRS2, and increased activation of Mek1/2 and Stat3, upon FGF1 stimulation, and as compared to wild-type Fgfr2 in cell culture (PMID: 23527311).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 K642R

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Transcript NM_022970
gDNA chr10:g.121488055T>C
cDNA c.1925A>G
Protein p.K642R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970 chr10:g.121488055T>C c.1925A>G p.K642R RefSeq GRCh38/hg38
XM_024447889.1 chr10:g.121485449T>C c.1925A>G p.K642R RefSeq GRCh38/hg38
NM_001144913 chr10:g.121488055T>C c.1925A>G p.K642R RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121488055T>C c.1925A>G p.K642R RefSeq GRCh38/hg38
XM_017015923 chr10:g.121485449T>C c.1925A>G p.K642R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121488055T>C c.1925A>G p.K642R RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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