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| Gene | FGFR3 |
| Variant | S424F |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR3 S424F lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). S424F results in decreased serum dependency for growth in culture (PMID: 40526877), and therefore, is predicted to lead to a gain of Fgfr3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 S424F |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1804828C>T |
| cDNA | c.1271C>T |
| Protein | p.S424F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000142.5 | chr4:g.1804828C>T | c.1271C>T | p.S424F | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1804828C>T | c.1271C>T | p.S424F | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1804828C>T | c.1271C>T | p.S424F | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1804828C>T | c.1271C>T | p.S424F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR3 S424F | Advanced Solid Tumor | sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Balversa (erdafitinib) inhibited viability of cells expressing FGFR3 S424F in culture (PMID: 40526877). | 40526877 |
| FGFR3 S424F | Advanced Solid Tumor | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR3 S424F in culture (PMID: 40526877). | 40526877 |
| FGFR3 S424F | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR3 S424F in culture (PMID: 40526877). | 40526877 |