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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, Dec 2024). |
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 |