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
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
LinkDB

DBGET integrated database retrieval system