Variant: rs72556554 

    present in Gene: ATRIP;TREX1;ATRIP-TREX1
    present in Chromosome: 3
    Position on Chromosome: 48466996
    Alleles of this Variant: G/A;C

rs72556554 in ATRIP;TREX1;ATRIP-TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

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

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

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 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

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

PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

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

PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

rs72556554 in ATRIP;TREX1;ATRIP-TREX1 gene and Chilblain lupus 1 PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

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

PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

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

PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

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

rs72556554 in ATRIP;TREX1;ATRIP-TREX1 gene and Lupus Erythematosus, Systemic PMID 17660818 2007 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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

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

rs72556554 in ATRIP;TREX1;ATRIP-TREX1 gene and Vasculopathy, Retinal, With Cerebral Leukodystrophy PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

PMID 23881107 2013 Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

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

PMID 28089741 2017 Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

PMID 21270825 2011 Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

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

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

PMID 27391121 2016 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.