Annotation Detail
Information
- Associated Genes
- BANK1
- Associated Variants
-
BANK1 p.Arg61His (p.R61H)
(
ENST00000322953.9,
ENST00000428908.5,
ENST00000444316.2,
ENST00000504592.5,
ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 ) - Associated Disease
- Lupus Erythematosus, Discoid
- Source Database
- DisGeNET
- Description
- The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.
- Pubmed
- 21900951
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs