Annotation Detail
Information
- Associated Genes
- GFAP
- Associated Variants
-
GFAP p.Tyr242Asp (p.Y242D)
(
ENST00000435360.8,
ENST00000588735.3,
ENST00000638281.1,
ENST00000639277.1,
ENST00000253408.11 )
GFAP p.Tyr242Asp (p.Y242D) ( ENST00000253408.11, ENST00000435360.8, ENST00000588735.3, ENST00000638281.1, ENST00000639277.1 ) - Associated Disease
- Alexander disease
- Source Database
- DisGeNET
- Description
- Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr in glial fibrillary acidic protein (GFAP), which is mutated in Alexander disease (Y242D).
- Pubmed
- 24003221
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.526546940319812
- Year of publication
- 2013
Drugs