KEGG   VARIANT: 2778v1
Entry
2778v1                      Variant                                
Name
GNAS activating mutation
Gene
GNAS  GNAS complex locus [KO:K04632]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R201C
ClinVar: 15933
dbSNP: rs11547273
Variation
mutation R201H
ClinVar: 15934
dbSNP: rs121913495
Variation
mutation Q227R
ClinVar: 15935
dbSNP: rs121913494
Variation
mutation Q228H
ClinVar: 15936
dbSNP: rs137854533
Network
nt06310  CRH-ACTH-cortisol signaling
nt06324  GHRH-GH-IGF signaling
nt06360  Cushing syndrome
Disease
H00260  Pigmented micronodular adrenocortical disease
H01102  Pituitary adenomas
H01431  Cushing syndrome
H01483  Acromegaly
H02049  Bilateral macronodular adrenal hyperplasia
Reference
  Authors
Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S
  Title
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
  Journal
Science 344:917-20 (2014)
DOI:10.1126/science.1252328
Reference
PMID:2549426
  Authors
Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L
  Title
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
  Journal
Nature 340:692-6 (1989)
DOI:10.1038/340692a0
Reference
  Authors
Fukuoka H, Takahashi Y
  Title
The role of genetic and epigenetic changes in pituitary tumorigenesis.
  Journal
Neurol Med Chir (Tokyo) 54 Suppl 3:943-57 (2014)
DOI:10.2176/nmc.suppl.2014-3
Reference
  Authors
Melmed S
  Title
Pathogenesis of pituitary tumors.
  Journal
Nat Rev Endocrinol 7:257-66 (2011)
DOI:10.1038/nrendo.2011.40
Reference
  Authors
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
  Title
Cushing's syndrome.
  Journal
Lancet 386:913-27 (2015)
DOI:10.1016/S0140-6736(14)61375-1
Reference
  Authors
Duan K, Gomez Hernandez K, Mete O
  Title
Clinicopathological correlates of adrenal Cushing's syndrome.
  Journal
J Clin Pathol 68:175-86 (2015)
DOI:10.1136/jclinpath-2014-202612
Reference
  Authors
Melmed S
  Title
Acromegaly pathogenesis and treatment.
  Journal
J Clin Invest 119:3189-202 (2009)
DOI:10.1172/JCI39375
Reference
PMID:2825031
  Authors
Vallar L, Spada A, Giannattasio G
  Title
Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas.
  Journal
Nature 330:566-8 (1987)
DOI:10.1038/330566a0
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