Annotation Detail
Information
- Associated Genes
- CACNA1A
- Associated Variants
-
CACNA1A p.Phe1406Cys (p.F1406C)
(
ENST00000360228.11,
ENST00000573710.7,
ENST00000585802.7,
ENST00000587525.6,
ENST00000635727.1,
ENST00000635895.1,
ENST00000636012.1,
ENST00000636389.1,
ENST00000636473.2,
ENST00000636549.1,
ENST00000637276.1,
ENST00000637432.1,
ENST00000637736.1,
ENST00000637769.1,
ENST00000637819.2,
ENST00000637927.1,
ENST00000638009.2,
ENST00000638029.1,
ENST00000664864.1 )
CACNA1A p.Phe1406Cys (p.F1406C) ( ENST00000360228.11, ENST00000573710.7, ENST00000585802.7, ENST00000587525.6, ENST00000635727.1, ENST00000635895.1, ENST00000636012.1, ENST00000636389.1, ENST00000636473.2, ENST00000636549.1, ENST00000637276.1, ENST00000637432.1, ENST00000637736.1, ENST00000637769.1, ENST00000637819.2, ENST00000637927.1, ENST00000638009.2, ENST00000638029.1, ENST00000664864.1 ) - Associated Disease
- Episodic ataxia type 2 (disorder)
- Source Database
- DisGeNET
- Description
- EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.
- Pubmed
- 11723274
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.575124799966376
- Year of publication
- 2001
Drugs