KEGG   VARIANT: 9247v2Help
Entry
9247v2                      Variant                                

Name
GCM2 activating mutation
Gene
GCM2  glial cells missing transcription factor 2 [KO:K21598]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation Y394S
ClinVar: 355008
dbSNP: rs142287570
Variation
mutation Q251E
ClinVar: 375590
dbSNP: rs1057519581
Network
nt06318  CaSR-PTH signaling
  Element
N00294  Mutation-activated GCM2 to transcription
Reference
  Authors
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
  Title
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
  Journal
Am J Hum Genet 99:1034-1044 (2016)
DOI:10.1016/j.ajhg.2016.08.018
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