Mutant protein

Articles

• BRAF-V600E
  2 February 2010

  BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas (PTCs).
  Usually, mutations in the codons 600 or 601 lead to constitutive activity in the Ras-mitogen-activated protein kinase pathway.
  Neoplasms associated with BRAF-V600E mutations:
  histiocytic proliferations
  Langerhans cell histiocytosis
  Erdheim-Chester disease
  juvenile xanthogranuloma family neoplasms (#31685033#)
  -* BRAF V600E mutations are not an oncogenic driver of solitary (...)

• AR-701H
  5 January 2010

  References
  Systematic structure-function analysis of androgen receptor L701 mutants explains the properties of the prostate cancer mutant L701H. van de Wijngaart DJ, Molier M, Lusher SJ, Hersmus R, Jenster G, Trapman J, Dubbink HJ. J Biol Chem. PMID: #20007693#

• APOC3
  23 June 2010

  APOLIPOPROTEIN C-III; APOC3; APO C III

• KIT-D816V
  29 November 2011

  KIT(D816V)

• AKT1-pS473
  14 January 2011

  AKT-pS473