KEGG   VARIANT: 844v1
Entry
844v1                      Variant                                 
Name
CASQ1 mutation
Type
Loss of function
Gene
CASQ1  calsequestrin 1 [KO:K23468]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114250
Network
nt06528  Calcium signaling
Disease
H02320  Vacuolar myopathy with CASQ1 aggregates
Reference
PMID:33786938
  Authors
Hanna AD, Lee CS, Babcock L, Wang H, Recio J, Hamilton SL
  Title
Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
  Journal
FASEB J 35:e21349 (2021)
DOI:10.1096/fj.202001653RR
LinkDB

DBGET integrated database retrieval system