KEGG VARIANT: 2778v1

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

nt06234  cAMP signaling
nt06310  CRH-ACTH-cortisol signaling
nt06324  GHRH-GH-IGF signaling
nt06360  Cushing syndrome

Element

N00321

Mutation-activated GNAS to ACTH-cortisol signaling pathway

N00326

Mutation-activated GNAS to CRHR-PKA-ACTH signaling pathway

N00912

Mutation-activated GNAS to GHRHR-PKA-GH signaling pathway

Reference

PMID:24855271

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