Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 MUTATION
FGFR3 MUTATION
FGFR3 p.Gly377Cys (p.G377C) ( 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) ( ENST00000440486.8, ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000481110.7 )
FGFR3 p.Gly377Cys (p.G377C) ( 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 ) - Associated Disease
- achondroplasia
- Source Database
- DisGeNET
- Description
- A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a knock-in approach using gene targeting leading to a constitutively active receptor.
- Pubmed
- 11518810
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.621035659391194
- Year of publication
- 2001
Drugs