KEGG   VARIANT: 25939v1
Entry
25939v1                      Variant                               
Name
SAMHD1 mutation
Type
Loss of function
Gene
SAMHD1  SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [KO:K22544]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606754
Network
nt06520  CGAS-STING signaling
Disease
H00290  Aicardi-Goutieres syndrome
H00291  Familial chilblain lupus (FCL)
Reference
  Authors
Wan D, Jiang W, Hao J
  Title
Research Advances in How the cGAS-STING Pathway Controls the Cellular Inflammatory Response.
  Journal
Front Immunol 11:615 (2020)
DOI:10.3389/fimmu.2020.00615
Reference
  Authors
Santa P, Garreau A, Serpas L, Ferriere A, Blanco P, Soni C, Sisirak V
  Title
The Role of Nucleases and Nucleic Acid Editing Enzymes in the Regulation of Self-Nucleic Acid Sensing.
  Journal
Front Immunol 12:629922 (2021)
DOI:10.3389/fimmu.2021.629922
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