• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Lys (c.1798_1799delGTinsAA); ClinVar=VCV000375941; Zygosity=Heterozygous (PubMed=20149136; PubMed=26214590).
  

PubMed=9177196; DOI=10.1073/pnas.94.12.6210
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
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=23012583
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)

PubMed=26214590; DOI=10.1038/ng.3361
Krauthammer M., Kong Y., Bacchiocchi A., Evans P., Pornputtapong N., Wu C., McCusker J.P., Ma S.-G., Cheng E., Straub R., Serin M., Bosenberg M.W., Ariyan S., Narayan D., Sznol M., Kluger H.M., Mane S., Schlessinger J., Lifton R.P., Halaban R.
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)