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

PubMed=21880213
Zanna P., Maida I., Turpin Sevilla M.C., Susca F.C., Filotico R., Arciuli M., Cassano N., Vena G.A., Cicero R., Guida G.
Molecular characterization of novel melanoma cell lines.
J. Biol. Regul. Homeost. Agents 25:239-247(2011)

PubMed=23489693
Zanna P., Maida I., Grieco C., Guida S., Turpin Sevilla M.C., De Summa S., Tommasi S., Vena G.A., Filotico R., Guida G.
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
Guida M., Strippoli S., Ferretta A., Bartolomeo N., Porcelli L., Maida I., Azzariti A., Tommasi S., Grieco C., Guida S., Albano A., Lorusso V., Guida G.
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)