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| Gene | FGFR2 |
| Variant | N652S |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 N652S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N652S results in growth factor-independent growth in a high-throughput cell culture assay (PMID: 41361008), and has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N652S |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121488022T>C |
| cDNA | c.1955A>G |
| Protein | p.N652S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121488022T>C | c.1955A>G | p.N652S | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121488022T>C | c.1955A>G | p.N652S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 N652S | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |