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Gene | FGFR3 |
Variant | L608V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 L608V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L608V has been identified in the scientific literature (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 L608V |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805926T>G |
cDNA | c.1822T>G |
Protein | p.L608V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |