Department of Medical Genetics
The RAS/MAPK Syndromes Homepage
Genes and Disorders with Germline Mutations and Somatic Mutations Overview
Updated on July 25, 2008
Yoko Aoki MD
Gene symbol Protein OMIM Number of exons (coding exons) Chromosome location Germline mutations Somatic mutations
HRAS HRAS 190020 6 (5) 11p15.5 Costello Bladder carcinoma
KRAS KRAS 190070 6 (5) 12p12.1 CFC
Lung, colon and pancreatic cancer
BRAF BRAF 164757 18 (18) 7q34 CFC Malignant melanoma, colon cancer, thyroid cancer
MAP2K1 MEK1 176872 11 (11) 15q22 CFC \
MAP2K2 MEK2 601263 11 (11) 19p13.3 CFC \
PTPN11 SHP-2 176876 16 (15) 12q24.1 Noonan
JMML, AML, ALL, MDS, CML, solid tumors
JMML, juvenile myelomonocytic leukemia; AML, acute myeloid leukemia, ALL; acute lymphoblastic leukemia, MDS, myelodysplasitc syndrome;
CML; chronic myelogenous leukemia; MDS, myelodysplasitc syndrome