KEGG   VARIANT: 9247v1Help
Entry
9247v1                      Variant                                

Name
GCM2 inactivating mutation
Gene
GCM2  glial cells missing transcription factor 2 [KO:K21598]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R47L
ClinVar: 6091
dbSNP: rs104893959
Variation
mutation I298Tfs
ClinVar: 64623
dbSNP: rs886037646
Variation
mutation G63S
ClinVar: 6092
dbSNP: rs104893960
Network
nt06318  CaSR-PTH signaling
  Element
N00295  Mutation-inactivated GCM2 to transcription
Reference
  Authors
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV
  Title
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
  Journal
Hum Mol Genet 19:2028-38 (2010)
DOI:10.1093/hmg/ddq084
Reference
  Authors
Sticht H, Hashemolhosseini S
  Title
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
  Journal
Med Hypotheses 67:482-7 (2006)
DOI:10.1016/j.mehy.2006.01.062
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