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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 |
Transcript | NM_022970.4 |
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_001144913.1 | 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_022970.4 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
XM_024447889.2 | chr10:g.121485449T>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_024447889.1 | chr10:g.121485449T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 K642R | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |