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| Gene | FGFR2 |
| Variant | D650I |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 D650I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650I 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 D650I |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121488028_121488029delGAinsAT |
| cDNA | c.1948_1949delGAinsAT |
| Protein | p.D650I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144919.1 | chr10:g.121483786_121483787delGAinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| NM_001144919 | chr10:g.121483786_121483787delTCinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121488028_121488029delGAinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| NM_001144919.2 | chr10:g.121483786_121483787delGAinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121488028_121488029delTCinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121488028_121488029delGAinsAT | c.1948_1949delGAinsAT | p.D650I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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