• Gene deletion; HGNC; HGNC:6190; JAK1; Zygosity=Heterozygous (PubMed=28561041).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=23348503).
  
• Mutation; HGNC; HGNC:6190; JAK1; Simple; p.Gly600Trp (c.1798G>T); Zygosity=Heterozygous (PubMed=28561041).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=23348503; DOI=10.1126/science.1230062
Susanne Horn, Adina Figl, P. Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)

PubMed=28561041; DOI=10.1038/ncomms15440; PMCID=PMC5460020
Antje Sucker, Fang Zhao, Natalia Pieper, Christina Heeke, Raffaela Maltaner, Nadine Stadtler, Birgit Real, Nicola Bielefeld, Sebastian Howe, Benjamin Weide, Ralf Gutzmer ...Show all 23 authors... , Jochen Sven Utikal, Carmen Loquai, Helen Gogas, Ludger Klein-Hitpass, Michael Zeschnigk, Astrid Maria Westendorf, Mirko Trilling, Susanne Horn, Bastian Schilling, Dirk Schadendorf, Klaus Georg Griewank, Annette Paschen; Show fewer authors
Acquired IFNgamma resistance impairs anti-tumor immunity and gives rise to T-cell-resistant melanoma lesions.
Nat. Commun. 8:15440.1-15440.15(2017)