Variant: rs121908117 

    present in Gene: ATRIP;TREX1;ATRIP-TREX1
    present in Chromosome: 3
    Position on Chromosome: 48466707
    Alleles of this Variant: G/A

rs121908117 in ATRIP;TREX1;ATRIP-TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

PMID 18045533 2007 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

PMID 16845398 2006 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 17293595 2007 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

PMID 25848017 2015 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.

PMID 17440703 2007 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

rs121908117 in ATRIP;TREX1;ATRIP-TREX1 gene and Chilblain lupus 1 PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

PMID 17440703 2007 Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus.

PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 17357087 2007 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

PMID 25848017 2015 The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease.

rs121908117 in ATRIP;TREX1;ATRIP-TREX1 gene and Vasculopathy, Retinal, With Cerebral Leukodystrophy PMID 22829693 2013 Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

PMID 20871604 2010 The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

PMID 18805785 2008 The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

PMID 17440703 2007 A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

PMID 25848017 2015 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.

PMID 20799324 2010 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

PMID 23989343 2013 A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.