rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
|
21937424 |
2011 |
rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
A rare homozygous R114H mutation was identified in one Asian SLE patient, whereas all genotypes at this mutation in previous reports for SLE were heterozygous.
|
21270825 |
2011 |
rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutation in systemic lupus erythematosus.
|
18805785 |
2008 |
rs72556554
|
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
rs370504038
|
|
Lupus Erythematosus, Systemic
|
|
0.710 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs370504038
|
|
Lupus Erythematosus, Systemic
|
|
0.710 |
GeneticVariation
|
BEFREE |
Five heterozygous mutations were detected at the Y305C polymorphism in European lupus cases but none were observed in European controls.
|
21270825 |
2011 |
rs370504038
|
|
Lupus Erythematosus, Systemic
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs370504038
|
|
Lupus Erythematosus, Systemic
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
rs112741962
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs113107733
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs148833270
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs148833270
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs148833270
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
rs72556555
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs72556555
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs72556555
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
rs760838030
|
|
Lupus Erythematosus, Systemic
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs762011967
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs762011967
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs762011967
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
|
17660818 |
2007 |
rs780022923
|
|
Lupus Erythematosus, Systemic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs121908117
|
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, dysfunctional dsDNA degradation by TREX1 D18N induces disease in mice that recapitulates many characteristics of human lupus.
|
25848017 |
2015 |