Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gly298Ser (p.G298S)
(
ENST00000315091.7,
ENST00000240185.8,
ENST00000700088.1,
ENST00000616545.4,
ENST00000621790.4,
ENST00000629725.2,
ENST00000639083.1,
ENST00000649624.1 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000240185.8, ENST00000700088.1, ENST00000621790.4, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000649624.1, ENST00000629725.2 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000639083.1, ENST00000616545.4, ENST00000315091.7, ENST00000629725.2, ENST00000649624.1, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP p.Gly298Ser (p.G298S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala382Thr (p.A382T) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ala382Pro (p.A382P) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- neuroblastoma
- Source Database
- DisGeNET
- Description
- In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag.
- Pubmed
- 24477737
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs