Variant: rs121434516 

    present in Gene: SAMHD1
    present in Chromosome: 20
    Position on Chromosome: 36930760
    Alleles of this Variant: C/T

rs121434516 in SAMHD1 gene and AICARDI-GOUTIERES SYNDROME 5 (disorder) PMID 24035396 2013 Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

PMID 29670289 2018 SAMHD1 acts at stalled replication forks to prevent interferon induction.

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.

PMID 20842748 2010 Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

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

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