• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=20149136).
  

PubMed=9177196; DOI=10.1073/pnas.94.12.6210; PMCID=PMC21028
Halaban R., Cheng E., Zhang Y., Moellmann G.E., Hanlon D., Michalak M., Setaluri V., Hebert D.N.
Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells.
Proc. Natl. Acad. Sci. U.S.A. 94:6210-6215(1997)

PubMed=20149136; DOI=10.1111/j.1755-148X.2010.00685.x; PMCID=PMC2848976
Halaban R., Zhang W., Bacchiocchi A., Cheng E., Parisi F., Ariyan S., Krauthammer M., McCusker J.P., Kluger Y., Sznol M.
PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells.
Pigment Cell Melanoma Res. 23:190-200(2010)

PubMed=21569352; DOI=10.1186/1471-2164-12-230; PMCID=PMC3114747
Parisi F., Ariyan S., Narayan D., Bacchiocchi A., Hoyt K., Cheng E., Xu F., Li P.-N., Halaban R., Kluger Y.
Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies.
BMC Genomics 12:230.1-230.14(2011)

PubMed=23012583; PMCID=PMC3447199
Parisi F., Micsinai M., Strino F., Ariyan S., Narayan D., Bacchiocchi A., Cheng E., Xu F., Li P.-N., Kluger H.M., Halaban R., Kluger Y.
Integrated analysis of tumor samples sheds light on tumor heterogeneity.
Yale J. Biol. Med. 85:347-361(2012)