Annotation Detail
Information
- Associated Genes
- TREX1
- Associated Variants
-
ATRIP c.*1442G>A, TREX1 p.Arg114His (p.R114H)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1442G>C, TREX1 p.Arg114Pro (p.R114P) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1442G>A, TREX1 p.Arg114His (p.R114H) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1442G>C, TREX1 p.Arg114Pro (p.R114P) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
- Pubmed
- 21937424
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.251887360544741
- Year of publication
- 2011
Drugs