Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ser249Cys (p.S249C)
(
ENST00000412135.7,
ENST00000340107.9,
ENST00000440486.8,
ENST00000352904.6,
ENST00000481110.7 )
FGFR3 p.Ser249Phe (p.S249F) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Ser249Cys (p.S249C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Ser249Phe (p.S249F) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Carcinoma of bladder
- Source Database
- DisGeNET
- Description
- Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.
- Pubmed
- 17384684
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0192723729177015
- Year of publication
- 2007
Drugs