Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Gly382Arg (p.G382R)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000440486.8, ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, 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.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Gly382Arg (p.G382R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, 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
- THANATOPHORIC DYSPLASIA, TYPE I (disorder)
- Source Database
- DisGeNET
- Description
- Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.
- Pubmed
- 12297284
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.456557954196898
- Year of publication
- 2002
Drugs