KEGG   VARIANT: 9247v2
Entry
9247v2                      Variant                                
Name
GCM2 activating mutation
Type
Gain of function
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
Disease
H00246  Primary hyperparathyroidism
Reference
PMID:27745835
  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
Reference
PMID:29108698
  Authors
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E
  Title
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
  Journal
Surgery 163:31-34 (2018)
DOI:10.1016/j.surg.2017.04.027
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