Annotation Detail

Information
Associated Genes
FGFR3
Associated Variants
FGFR3 p.Tyr375Cys (p.Y375C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Gln (p.K652Q) ( ENST00000340107.9, ENST00000352904.6, ENST00000481110.7, ENST00000412135.7, ENST00000440486.8 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Tyr375Cys (p.Y375C) ( ENST00000412135.7, ENST00000340107.9, ENST00000352904.6, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Gln (p.K652Q) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Lys652Glu (p.K652E) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
Associated Disease
multiple myeloma
Source Database
DisGeNET
Description
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.
Pubmed
11429702
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.268998130007464
Year of publication
2001
Drugs