• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=20149136; PubMed=26214590).
  

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=21543894; DOI=10.4161/cc.10.11.15777; PMCID=PMC3233487
Chan E., Patel R., Nallur S., Ratner E., Bacchiocchi A., Hoyt K., Szpakowski S., Godshalk S., Ariyan S., Sznol M., Halaban R., Krauthammer M., Tuck D., Slack F.J., Weidhaas J.B.
MicroRNA signatures differentiate melanoma subtypes.
Cell Cycle 10:1845-1852(2011)

PubMed=22842228; DOI=10.1038/ng.2359; PMCID=PMC3432702
Krauthammer M., Kong Y., Ha B.H., Evans P., Bacchiocchi A., McCusker J.P., Cheng E., Davis M.J., Goh G., Choi M., Ariyan S., Narayan D., Dutton-Regester K., Capatana A., Holman E.C., Bosenberg M.W., Sznol M., Kluger H.M., Brash D.E., Stern D.F., Materin M.A., Lo R.S., Mane S.M., Ma S.-G., Kidd K.K., Hayward N.K., Lifton R.P., Schlessinger J., Boggon T.J., Halaban R.
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Nat. Genet. 44:1006-1014(2012)

PubMed=26214590; DOI=10.1038/ng.3361; PMCID=PMC4916843
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.M., 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)