KEGG   VARIANT: 1027v3
Entry
1027v3                      Variant                                
Name
CDKN1B mutation
Gene
CDKN1B  cyclin dependent kinase inhibitor 1B [KO:K06624]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation S27Gfs
ClinVar: 183391
dbSNP: rs786201007
Variation
mutation P69L
ClinVar: 183393
dbSNP: rs777354267
Variation
mutation S125Terfs
ClinVar: 183395
dbSNP: rs786201011
Variation
mutation W76Ter
ClinVar: 8823
dbSNP: rs121917832
Network
nt06360  Cushing syndrome
  Element
N00316  Mutation-inactivated CDKN1B to p27-cell cycle G1/S
Reference
  Authors
Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Makinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gundogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P, Aaltonen LA
  Title
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
  Journal
J Clin Endocrinol Metab 92:3321-5 (2007)
DOI:10.1210/jc.2006-2843
Reference
  Authors
Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC, Pellegata NS
  Title
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.
  Journal
Hum Mutat 31:E1825-35 (2010)
DOI:10.1002/humu.21354
Reference
  Authors
Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML
  Title
A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.
  Journal
Eur J Endocrinol 171:K7-K17 (2014)
DOI:10.1530/EJE-14-0080
Reference
  Authors
Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ
  Title
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
  Journal
Proc Natl Acad Sci U S A 103:15558-63 (2006)
DOI:10.1073/pnas.0603877103
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