KEGG   VARIANT: 6786v2
Entry
6786v2                      Variant                                
Name
STIM1 mutation
Type
Loss of function
Gene
STIM1  stromal interaction molecule 1 [KO:K16059]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605921
Network
nt06528  Calcium signaling
Disease
H00093  Combined immunodeficiency
Reference
  Authors
Parry DA, Holmes TD, Gamper N, El-Sayed W, Hettiarachchi NT, Ahmed M, Cook GP, Logan CV, Johnson CA, Joss S, Peers C, Prescott K, Savic S, Inglehearn CF, Mighell AJ
  Title
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
  Journal
J Allergy Clin Immunol 137:955-7.e8 (2016)
DOI:10.1016/j.jaci.2015.08.051
Reference
  Authors
Silva-Rojas R, Laporte J, Bohm J
  Title
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.
  Journal
Front Physiol 11:604941 (2020)
DOI:10.3389/fphys.2020.604941
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