KEGG   VARIANT: 9101v1
Entry
9101v1                      Variant                                
Name
USP8 mutation
Gene
USP8  ubiquitin specific peptidase 8 [KO:K11839]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation S718P
ClinVar: 161992
dbSNP: rs672601307
Variation
mutation S718C
ClinVar: 161993
dbSNP: rs672601308
Variation
mutation P720R
ClinVar: 161995
dbSNP: rs672601311
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00319  Mutation-activated USP8 to EGFR-ERK-ACTH signaling pathway
Reference
  Authors
Theodoropoulou M, Reincke M, Fassnacht M, Komada M
  Title
Decoding the genetic basis of Cushing's disease: USP8 in the spotlight.
  Journal
Eur J Endocrinol 173:M73-83 (2015)
DOI:10.1530/EJE-15-0320
Reference
  Authors
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M
  Title
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
  Journal
Nat Genet 47:31-8 (2015)
DOI:10.1038/ng.3166
LinkDB

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