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| Gene | FGFR3 |
| Variant | K508M |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | FGFR3 K508M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K508M confers a loss of function to the Fgfr3 protein as demonstrated by induction of growth arrest in cell culture and inactivation of Stat1 in vitro (PMID: 19088846) and loss of kinase activity in the context of Fgfr3-Tacc3 (PMID: 22837387). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 inact mut FGFR3 K508M |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1805465A>T |
| cDNA | c.1523A>T |
| Protein | p.K508M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047449824.1 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1805465A>T | c.1523A>T | p.K508M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR3 K508M | Advanced Solid Tumor | resistant | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR3 K508M were resistant to Balversa (erdafitinib) in culture (PMID: 40526877). | 40526877 |
| FGFR3 K508M | Advanced Solid Tumor | resistant | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR3 K508M were resistant to Fexagratinib (AZD4547) in culture (PMID: 40526877). | 40526877 |