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Gene | FGFR3 |
Variant | V555M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 V555M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555M results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226), and is associated with resistance to Fgfr inhibitors in culture (PMID: 28034880). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 V555M |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805767G>A |
cDNA | c.1663G>A |
Protein | p.V555M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |