Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | FGFR2 |
Variant | K660N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 K660N (corresponds to K559N in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K660N 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 K660N |
Transcript | NM_022970.4 |
gDNA | chr10:g.121488000C>G |
cDNA | c.1980G>C |
Protein | p.K660N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121488000C>G | c.1980G>C | p.K660N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 K660N FGFR2 amp | stomach cancer | predicted - resistant | AZD4547 | Preclinical - Cell culture | Actionable | In a preclinical study, a gastric cancer cell line harboring an FGFR2 amplification was found to have developed resistance to AZD4547 after prolonged exposure in culture, and was subsequently found to have acquired FGFR2 K660N (PMID: 32973082). | 32973082 |