Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Gly287Ser (p.G287S)
(
ENST00000700088.1,
ENST00000621790.4,
ENST00000240185.8,
ENST00000649624.1,
ENST00000629725.2,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1 )
TARDBP p.Gly287Arg (p.G287R) ( ENST00000700088.1, ENST00000621790.4, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Gly295Ser (p.G295S) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000639083.1, ENST00000616545.4, ENST00000315091.7 )
TARDBP p.Gly295Arg (p.G295R) ( ENST00000240185.8, ENST00000621790.4, ENST00000700088.1, ENST00000315091.7, ENST00000639083.1, ENST00000616545.4, ENST00000649624.1, ENST00000629725.2 )
TARDBP p.Ser332Asn (p.S332N) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000649624.1, ENST00000629725.2, ENST00000315091.7, ENST00000639083.1, ENST00000616545.4 )
TARDBP p.Gly335Asp (p.G335D) ( ENST00000639083.1, ENST00000616545.4, ENST00000315091.7, ENST00000649624.1, ENST00000629725.2, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP p.Met337Val (p.M337V) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Ser379Cys (p.S379C) ( ENST00000315091.7, ENST00000639083.1, ENST00000616545.4, ENST00000629725.2, ENST00000649624.1, ENST00000240185.8, ENST00000621790.4, ENST00000700088.1 )
TARDBP p.Ser393Leu (p.S393L) ( ENST00000700088.1, ENST00000315091.7, ENST00000621790.4, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1 )
TARDBP p.Gly287Ser (p.G287S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly287Arg (p.G287R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly295Ser (p.G295S) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly295Arg (p.G295R) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ser332Asn (p.S332N) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gly335Asp (p.G335D) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Met337Val (p.M337V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ser379Cys (p.S379C) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ser393Leu (p.S393L) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
- Source Database
- DisGeNET
- Description
- High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
- Pubmed
- 19224587
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2009
Drugs