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| Gene | FGFR2 |
| Variant | N549S |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 N549S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549S demonstrates increased transforming activity compared to wild-type Fgfr2 in culture (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N549S |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121498521T>C |
| cDNA | c.1646A>G |
| Protein | p.N549S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.4 | chr10:g.121498521T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_023029.2 | chr10:g.121488064T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121498521T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121488067T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_001144919.1 | chr10:g.121488067T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_001144915.2 | chr10:g.121488064T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_001144915.1 | chr10:g.121488064T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| NM_023029.2 | chr10:g.121488064T>C | c.1646A>G | p.N549S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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