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| Gene | FGFR2 |
| Variant | R664W |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 R664W lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R664W results in a growth advantage relative to wild-type Fgfr2 in a competition assay but transformation activity similar to wild-type in cultured cells (PMID: 34272467), and decreased autophosphorylation compared to wild-type Fgfr2 in an in vitro kinase assay (PMID: 28151998), and therefore, its effect on Fgfr2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 R664W |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121487421G>A |
| cDNA | c.1990C>T |
| Protein | p.R664W |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_024447891.2 | chr10:g.121483722_121483724delCGAinsTGG | c.1990_1992delCGAinsTGG | p.R664W | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121487421G>A | c.1990C>T | p.R664W | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121487421G>A | c.1990C>T | p.R664W | RefSeq | GRCh38/hg38 |
| XM_006717712 | chr10:g.121483722_121483724delTCGinsCCA | c.1990_1992delCGAinsTGG | p.R664W | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121487421G>A | c.1990C>T | p.R664W | RefSeq | GRCh38/hg38 |
| XM_024447891.1 | chr10:g.121483722_121483724delCGAinsTGG | c.1990_1992delCGAinsTGG | p.R664W | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 R664W | unknown |