• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asn822Lys (c.2466T>A) (N818K); ClinVar=VCV000375931; Zygosity=Unspecified (PubMed=24576830).
  

PubMed=16827748; DOI=10.1111/j.1600-0749.2006.00322.x
Hoek K.S., Schlegel N.C., Brafford P., Sucker A., Ugurel S., Kumar R., Weber B.L., Nathanson K.L., Phillips D.J., Herlyn M., Schadendorf D., Dummer R.
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature.
Pigment Cell Res. 19:290-302(2006)

PubMed=18632627; DOI=10.1158/0008-5472.CAN-08-0235; PMCID=PMC2615688
Smalley K.S.M., Contractor R., Nguyen T.K., Xiao M., Edwards R., Muthusamy V., King A.J., Flaherty K.T., Bosenberg M.W., Herlyn M., Nathanson K.L.
Identification of a novel subgroup of melanomas with KIT/cyclin-dependent kinase-4 overexpression.
Cancer Res. 68:5743-5752(2008)

PubMed=24576830; DOI=10.1158/0008-5472.CAN-13-2625; PMCID=PMC4005042
Nissan M.H., Pratilas C.A., Jones A.M., Ramirez R., Won H., Liu C.-L., Tiwari S., Kong L., Hanrahan A.J., Yao Z., Merghoub T., Ribas A., Chapman P.B., Yaeger R.D., Taylor B.S., Schultz N., Berger M.F., Rosen N., Solit D.B.
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.
Cancer Res. 74:2340-2350(2014)