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Gene | FGFR2 |
Variant | K659N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 K659N (also referred to as K660N from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K659N results in proliferation similar to wild-type Fgfr2 in a competition assay (PMID: 34272467) but confers a gain of function to the Fgfr2 protein as demonstrated by increased autophosphorylation and phosphorylation of downstream targets, Mek and Stat3 (PMID: 23527311), and increased transformation activity in cultured cells (PMID: 34272467). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 K659N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488000C>G |
cDNA | c.1977G>C |
Protein | p.K659N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006717708.3 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
XM_006717708 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
XM_006717708.4 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121488000C>G | c.1977G>C | p.K659N | RefSeq | GRCh38/hg38 |
XM_017015920 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
XM_017015920.2 | chr10:g.121488054T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121488000C>G | c.1977G>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121488000C>G | c.1977G>C | p.K659N | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121488003T>G | c.1977A>C | p.K659N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 K659N | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |