Signaling by RAF1 mutants

Stable Identifier
R-HSA-9656223
Type
Pathway
Species
Homo sapiens
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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
25435214 Targeting RAS-ERK signalling in cancer: promises and challenges

Poulikakos, PI, Samatar, AA

Nat Rev Drug Discov 2014
23875798 The RASopathies

Rauen, KA

Annu Rev Genomics Hum Genet 2013
Participants
Participates
Disease
Name Identifier Synonyms
Costello syndrome DOID:0050469 Faciocutaneoskeletal Syndrome, FCS SYNDROME
LEOPARD syndrome DOID: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
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
hypertrophic cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy, hypertrophic obstructive cardiomyopathy
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