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@genomenon.com
| Gene | FGFR2 |
| Variant | N549K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 N549K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549K confers a gain of function to the Fgfr2 protein resulting in a growth advantage relative to wild-type Fgfr2 in a competition assay, increased transformation activity in cultured cells (PMID: 34272467), oncogenic transformation in culture (PMID: 18552176, PMID: 17803937, PMID: 29533785) and increased MAPK pathway signaling in cultured cells (PMID: 19147536). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N549K |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121498520A>C |
| cDNA | c.1647T>G |
| Protein | p.N549K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144919 | chr10:g.121488066G>C | c.1647C>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_001144915 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121488066G>C | c.1647C>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_023029 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_001144919.1 | chr10:g.121488066G>C | c.1647C>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121498520A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_001144915.2 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_001144915.1 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121498520A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121498520A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_023029.2 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| NM_023029.2 | chr10:g.121488063A>C | c.1647T>G | p.N549K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 N549K | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |
| FGFR2 K310R FGFR2 N549K | ||
| FGFR2 I291_Y308del FGFR2 N549K | ||
| FGFR2 C382R FGFR2 N549D FGFR2 N549H FGFR2 N549K FGFR2 V564L |