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Gene | FGFR3 |
Variant | F386L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 F386L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F386L has been reported as a polymorphism (PMID: 19377444, PMID: 16877735), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 F386L |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804410T>C |
cDNA | c.1156T>C |
Protein | p.F386L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |