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| Gene | FGFR3 |
| Variant | V553L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 V553L lies within the protein kinase domain (UniProt.org). V553L has been identified in the scientific literature (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 V553L |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1805761G>C |
| cDNA | c.1657G>C |
| Protein | p.V553L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000142.5 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1805761G>C | c.1657G>C | p.V553L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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