Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FGFR1 |
| Variant | P483L |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | FGFR1 P483L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). P483L results in transformation activity similar to wild-type Fgfr1 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 P483L |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38417974G>A |
| cDNA | c.1448C>T |
| Protein | p.P483L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716303.4 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38417974G>A | c.1448C>T | p.P483L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR1 P483L | Advanced Solid Tumor | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were sensitive to treatment with Fexagratinib (AZD4547) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 P483L | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 P483L | Advanced Solid Tumor | predicted - sensitive | E7090 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 P483L | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
| FGFR1 P483L | Advanced Solid Tumor | predicted - resistant | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were resistant to treatment with Lytgobi (futibatinib) in culture (PMID: 34272467). | 34272467 |
| FGFR1 P483L | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR1 P483L were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |