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Gene | FGFR3 |
Variant | E587Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 E587Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E587Q 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, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 E587Q |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805863G>C |
cDNA | c.1759G>C |
Protein | p.E587Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |