KEGG   VARIANT: 2778v2
Entry
2778v2                      Variant                                
Name
GNAS inactivating mutation
Type
Loss of function
Gene
GNAS  GNAS complex locus [KO:K04632]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation M1V
ClinVar: 15927
dbSNP: rs137854530
Variation
mutation Q12X
ClinVar: 209158
dbSNP: rs797045046
Variation
mutation L99P
ClinVar: 15931
dbSNP: rs137854531
Variation
mutation A102V
ClinVar: 430510
dbSNP: rs1131691999
Variation
mutation R165C
ClinVar: 15932
dbSNP: rs137854532
Variation
mutation R231H
ClinVar: 15946
dbSNP: rs137854538
Variation
mutation R258W
ClinVar: 15941
dbSNP: rs137854535
Variation
mutation S250R
ClinVar: 15939
dbSNP: rs137854534
Variation
mutation A366S
ClinVar: 15944
dbSNP: rs137854537
Network
nt06318  CaSR-PTH signaling
Disease
H00244  Pseudohypoparathyroidism
Reference
PMID:14671404
  Authors
Levine MA, Germain-Lee E, Jan de Beur S
  Title
Genetic basis for resistance to parathyroid hormone.
  Journal
Horm Res 60 Suppl 3:87-95 (2003)
DOI:10.1159/000074508
Reference
PMID:27109785
  Authors
Mantovani G, Spada A, Elli FM
  Title
Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues.
  Journal
Nat Rev Endocrinol 12:347-56 (2016)
DOI:10.1038/nrendo.2016.52
Reference
PMID:28857066
  Authors
Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM
  Title
Hypoparathyroidism.
  Journal
Nat Rev Dis Primers 3:17055 (2017)
DOI:10.1038/nrdp.2017.55
LinkDB

DBGET integrated database retrieval system