KEGG   VARIANT: 6786v1
Entry
6786v1                      Variant                                
Name
STIM1 gain-of-function mutation
Type
Gain 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
H02258  Tubular aggregate myopathy
H02259  Stormorken syndrome
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
Reference
  Authors
Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H
  Title
Genetic defects are common in myopathies with tubular aggregates.
  Journal
Ann Clin Transl Neurol 9:4-15 (2022)
DOI:10.1002/acn3.51477
LinkDB

DBGET integrated database retrieval system