KEGG   VARIANT: 255738v1Help
Entry
255738v1                      Variant                              

Name
PCSK9 mutation
Gene
PCSK9  proprotein convertase subtilisin/kexin type 9 [KO:K13050]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607786
Network
nt06320  APOB-LDLR signaling
  Element
N00337  Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation
Reference
  Authors
Wu NQ, Li JJ
  Title
PCSK9 gene mutations and low-density lipoprotein cholesterol.
  Journal
Clin Chim Acta 431:148-53 (2014)
DOI:10.1016/j.cca.2014.01.043
Reference
  Authors
De Castro-Oros I, Pocovi M, Civeira F
  Title
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
  Journal
Appl Clin Genet 3:53-64 (2010)
DOI:10.2147/TACG.S8285
Reference
  Authors
Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C
  Title
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
  Journal
Nat Genet 34:154-6 (2003)
DOI:10.1038/ng1161
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