Variant: rs76224909 

    present in Gene: ATRIP-TREX1;TREX1;ATRIP;SHISA5
    present in Chromosome: 3
    Position on Chromosome: 48467562
    Alleles of this Variant: A/C

rs76224909 in ATRIP-TREX1;TREX1;ATRIP;SHISA5 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 23979357 2013 The TREX1 C-terminal region controls cellular localization through ubiquitination.

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

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

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

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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

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

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