Variant: rs77371662

present in Gene: ATRIP;ATRIP-TREX1;TREX1 present in Chromosome: 3 Position on Chromosome: 48467020 Alleles of this Variant: -/GGC

rs77371662 in ATRIP;ATRIP-TREX1;TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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

rs77371662 in ATRIP;ATRIP-TREX1;TREX1 gene and Chilblain lupus 1 PMID 21937424 2011 The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

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

rs77371662 in ATRIP;ATRIP-TREX1;TREX1 gene and Vasculopathy, Retinal, With Cerebral Leukodystrophy PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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