KEGG   VARIANT: 51655v1
Entry
51655v1                      Variant                               
Name
RASD1 mutation
Gene
RASD1  ras related dexamethasone induced 1 [KO:K07843]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation K34M
COSM: 6196669
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00325  Mutation-inactivated RASD1 to CRHR-PKA-ACTH signaling pathway
Disease
H01102  Pituitary adenomas
H01431  Cushing syndrome
Reference
  Authors
Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB
  Title
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
  Journal
Cold Spring Harb Mol Case Stud 3:a001602 (2017)
DOI:10.1101/mcs.a001602
LinkDB

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