• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Arg (c.1798_1799delGTinsAG); ClinVar=VCV000375940; Zygosity=Homozygous (PubMed=21880213; PubMed=23489693).
  

PubMed=21880213
Paola Zanna, Immacolata Maida, Mari Carmen Turpin Sevilla, Francesco Claudio Susca, Raffaele Filotico, Marcella Arciuli, Nicoletta Cassano, Gino Antonio Vena, Rosa Cicero, Gabriella Guida;
Molecular characterization of novel melanoma cell lines.
J. Biol. Regul. Homeost. Agents 25:239-247(2011)

PubMed=23489693
Paola Zanna, Immacolata Maida, Claudia Grieco, Stefania Guida, Mari Carmen Turpin Sevilla, Simona De Summa, Stefania Tommasi, Gino Antonio Vena, Raffaele Filotico, Gabriella Guida;
Three novel human sporadic melanoma cell lines: signaling pathways controlled by MC1R, BRAF and beta-catenins.
J. Biol. Regul. Homeost. Agents 27:131-141(2013)

PubMed=27540956; DOI=10.1111/pcmr.12516
Michele Guida, Sabino Strippoli, Anna Ferretta, Nicola Bartolomeo, Letizia Porcelli, Immacolata Maida, Amalia Azzariti, Stefania Tommasi, Claudia Grieco, Stefania Guida, Anna Albano ...Show all 13 authors... , Vito Lorusso, Gabriella Guida; Show fewer authors
Detrimental effects of melanocortin-1 receptor (MC1R) variants on the clinical outcomes of BRAF V600 metastatic melanoma patients treated with BRAF inhibitors.
Pigment Cell Melanoma Res. 29:679-687(2016)