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| Gene | FGFR2 |
| Variant | H254Y |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 H254Y lies within the extracellular domain of the Fgfr2 protein (UniProt.org). H254Y 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 H254Y FGFR2 mutant FGFR2 exon7 FGFR2 H254Y |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121520158G>A |
| cDNA | c.760C>T |
| Protein | p.H254Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121520158G>A | c.760C>T | p.H254Y | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121520158G>A | c.760C>T | p.H254Y | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121520158G>A | c.760C>T | p.H254Y | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121520158G>A | c.760C>T | p.H254Y | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121520158G>A | c.760C>T | p.H254Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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