Annotation Detail
Information
- Associated Genes
- TNFAIP3
- Associated Variants
-
TNFAIP3 p.Ala125Val (p.A125V)
(
ENST00000237289.8,
ENST00000420009.6,
ENST00000421450.2,
ENST00000433680.2,
ENST00000612899.5 )
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Ala125Val (p.A125V) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) domain of TNFAIP3: F127C, which is in high-linkage disequilibrium with reported SLE-risk variants, and A125V, which has not been previously studied.
- Pubmed
- 20483768
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.268175211001211
- Year of publication
- 2010
Drugs