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| Gene | FGFR2 |
| Variant | S351C |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 S351C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S351C leads to a gain of Fgfr2 protein function as indicated by decreased serum dependency for growth and anchorage-independent colony formation in culture (PMID: 40526877). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S351C |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121517351G>C |
| cDNA | c.1052C>G |
| Protein | p.S351C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121517351G>C | c.1052C>G | p.S351C | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121517351G>C | c.1052C>G | p.S351C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 S351C | gain of function |