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| Gene | FGFR2 |
| Variant | D650L |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 D650L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650L demonstrates increased kinase activity compared to wild-type Fgfr2 in an in vitro assay (PMID: 28166054), 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 D650L |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121488028_121488029delGAinsCT |
| cDNA | c.1948_1949delGAinsCT |
| Protein | p.D650L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144919.1 | chr10:g.121483786_121483787delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121488028_121488029delTCinsAG | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| NM_001144919 | chr10:g.121483786_121483787delTCinsAG | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121488028_121488029delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121488028_121488029delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121483786_121483787delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 D650L | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |