Variant: rs138603088 

    present in Gene: SAMHD1
    present in Chromosome: 20
    Position on Chromosome: 36930783
    Alleles of this Variant: A/T

rs138603088 in SAMHD1 gene and AICARDI-GOUTIERES SYNDROME PMID 30275001 2018 Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

rs138603088 in SAMHD1 gene and AICARDI-GOUTIERES SYNDROME 5 (disorder) PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

PMID 22973040 2012 The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus.

PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

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

PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.