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| Gene | FGFR2 |
| Variant | N550K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 N550K (corresponds to N549K in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550K results in increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N550K |
| Transcript | NM_022970.4 |
| gDNA | chr10:g.121498520A>C |
| cDNA | c.1650T>G |
| Protein | p.N550K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144914.1 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144919 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
| NM_001144919.1 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |