Variant: rs587777609

present in Gene: STING1 present in Chromosome: 5 Position on Chromosome: 139480849 Alleles of this Variant: T/C

rs587777609 in STING1 gene and STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET PMID 25029335 2014 Activated STING in a vascular and pulmonary syndrome.

PMID 25401470 2014 Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

PMID 30842659 2019 Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP.