VARIANT: 9247v2
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
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
LinkDB
DBGET
integrated database retrieval system
