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| Gene | FGFR2 |
| Variant | R450H |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 R450H lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). R450H 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 R450H |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121503880C>T |
| cDNA | c.1349G>A |
| Protein | p.R450H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121503880C>T | c.1349G>A | p.R450H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 R450H | Advanced Solid Tumor | sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Balversa (erdafitinib) inhibited viability of cells expressing FGFR2 R450H in culture (PMID: 40526877). | 40526877 |
| FGFR2 R450H | Advanced Solid Tumor | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR2 R450H in culture (PMID: 40526877). | 40526877 |
| FGFR2 R450H | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR2 R450H in culture (PMID: 40526877). | 40526877 |
| FGFR2 R450H | Advanced Solid Tumor | sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Fexagratinib (AZD4547) inhibited viability of cells expressing FGFR2 R450H in culture (PMID: 40526877). | 40526877 |