Signaling by RAF1 mutants

Stable Identifier
R-HSA-9656223
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

RAF1, also known as CRAF, is mutated in a number of germline RASopathies including Noonan Syndrome, Costello Syndrome and others, and also at low frequency in a number of cancers (reviewed in Rauen, 2013; Samatar and Poulikakos, 2015). Activating mutations cluster around conserved region 2 (CR2) which is required for regulation of the protein and the activation segment in CR3 (reviewed in Rauen, 2013).

Literature References
PubMed ID Title Journal Year
23875798 The RASopathies

Rauen, KA

Annu Rev Genomics Hum Genet 2013
25435214 Targeting RAS-ERK signalling in cancer: promises and challenges

Samatar, AA, Poulikakos, PI

Nat Rev Drug Discov 2014
Participants
Participant Of
Disease
Name Identifier Synonyms
LEOPARD syndrome 14291 Generalized lentiginosis, Multiple lentigines syndrome, Moynahan syndrome, Cardiocutaneous syndrome, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Lentiginosis profusa syndrome, Gorlin syndrome II, Progressive cardiomyopathic lentiginosis
Costello syndrome 0050469 Faciocutaneoskeletal Syndrome, FCS SYNDROME
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Noonan syndrome 3490 Turner's phenotype, karyotype normal (disorder)
hypertrophic cardiomyopathy 11984 familial hypertrophic cardiomyopathy, hypertrophic obstructive cardiomyopathy
Authored
Reviewed
Created
Cite Us!