Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000555836.5, ENST00000554280.5, ENST00000557450.5, ENST00000348520.10, ENST00000554913.5, ENST00000553264.5, ENST00000555055.6, ENST00000352127.11, ENST00000334553.11, ENST00000554974.5, ENST00000452929.6 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- In the present study, we aimed to investigate: (a) the efficiency of SLE peripheral blood leucocytes in repairing DNA damage induced by ionizing radiation and (b) the association of DNA repair gene (XRCC1 Arg399Gln, XRCC3 Thr241Met and XRCC4 Ile401Thr) polymorphisms in SLE patients, considering the whole group, or stratified sub-groups according to clinical and laboratory features.
- Pubmed
- 18852222
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00581983144552528
- Year of publication
- 2008
Drugs