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 | FGFR3 |
| Variant | V555L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
FGFR3 mutant FGFR3 V555L |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1805767G>C |
| cDNA | c.1663G>C |
| Protein | p.V555L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047449823.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713871.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_011513420.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_001163213 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_001163213.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713871 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713871.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_011513420.2 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1805767G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| NM_001163213.1 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| XM_011513420 | chr4:g.1805761G>C | c.1663G>C | p.V555L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR3 V555L | Advanced Solid Tumor | decreased response | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells over expressing FGFR3 V555L demonstrated reduced sensitivity to Truseltiq (infigratinib) in culture (PMID: 28034880). | 28034880 |
| FGFR3 V555L | transitional cell carcinoma | resistant | Infigratinib | Case Reports/Case Series | Actionable | In a clinical study, two patients with metastatic urothelial carcinoma progressed while being treated with Truseltiq (infigratinib) and subsequent cell-free DNA testing revealed FGFR3 V555L (also corresponds to V443L) (PMID: 29848605). | 29848605 |