RAF1 Chromosome 3
Raf-1 proto-oncogene, serine/threonine kinase
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What This Gene Does
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitogen-activated protein kinase kinase kinases|RAF family"
Locus Type
gene with protein product
Location
3p25.2
Ensembl
ENSG00000132155
Associated Conditions (22)
RASopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1NN
LEOPARD syndrome 2
Noonan syndrome 5
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
RAF1-related disorder
Inborn genetic diseases
Primary familial hypertrophic cardiomyopathy
Hereditary cancer
Primary dilated cardiomyopathy
Noonan syndrome with multiple lentigines
Noonan syndrome 1
See cases
Embryonal rhabdomyosarcoma
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
Monogenic short statue
Germinomatous germ cell tumor
+2 more conditions
Key Variants
RS1057517887
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS1057520880
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS1057524239
Conflicting classifications of pathogenicity
RASopathy, Dilated cardiomyopathy 1NN, LEOPARD syndrome 2
Health Risk
RS1064797291
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1183812590
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS1189963978
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome and Noonan-related syndrome, RASopathy
Health Risk
RS1217477812
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS1235301663
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS139135606
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, RASopathy
Health Risk
RS140788943
Conflicting classifications of pathogenicity
RASopathy, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
RS1450510914
Conflicting classifications of pathogenicity
Noonan syndrome 5, LEOPARD syndrome 2, RASopathy
Health Risk
RS145611571
Conflicting classifications of pathogenicity
Cardiovascular phenotype, RASopathy, LEOPARD syndrome 2
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752713997 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS757591797 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, RASopathy |
| RS757700986 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 5, Dilated cardiomyopathy 1NN, LEOPARD syndrome 2 |
| RS758689352 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, RASopathy, Cardiovascular phenotype |
| RS761703202 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS761947194 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS768987002 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS774198365 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, RASopathy |
| RS778155315 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, RASopathy |
| RS779808613 | Health Risk | Conflicting classifications of pathogenicity | LEOPARD syndrome 2, Noonan syndrome 5, RASopathy |
| RS80338796 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 5, LEOPARD syndrome 2, Noonan syndrome with multiple lentigines |
| RS886041231 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Noonan syndrome, Cardiovascular phenotype |
| RS886057915 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 5, LEOPARD syndrome 2, RASopathy |
| RS886057916 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 5, LEOPARD syndrome 2, Noonan syndrome and Noonan-related syndrome |
| RS898490426 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 5, LEOPARD syndrome 2, RASopathy |
| RS933142627 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 5, RASopathy |
| RS938635028 | Health Risk | Conflicting classifications of pathogenicity | RASopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1NN |
| RS995473632 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, RASopathy, Cardiovascular phenotype |
| RS1057517813 | Health Risk | Likely pathogenic | — |
| RS1057518155 | Health Risk | Likely pathogenic | — |
| RS1553609996 | Health Risk | Likely pathogenic | — |
| RS1553610155 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS1575573330 | Health Risk | Likely pathogenic | LEOPARD syndrome 2, LEOPARD syndrome 2 |
| RS2058951328 | Health Risk | Likely pathogenic | Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS2470338599 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS727503384 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS727505017 | Health Risk | Likely pathogenic | Noonan syndrome, Primary familial hypertrophic cardiomyopathy, RASopathy |
| RS730881009 | Health Risk | Likely pathogenic | — |
| RS730881010 | Health Risk | Likely pathogenic | RASopathy, RASopathy, RASopathy |
| RS80338797 | Health Risk | Likely pathogenic | Noonan syndrome 5, LEOPARD syndrome 2, Noonan syndrome with multiple lentigines |
| RS1085307553 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS3730271 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 1 |
| RS397516813 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, LEOPARD syndrome 2 |
| RS397516827 | Health Risk | Pathogenic | RASopathy, Noonan syndrome 5, Germinomatous germ cell tumor |
| RS397516829 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, Noonan syndrome |
| RS587777586 | Health Risk | Pathogenic | Dilated cardiomyopathy 1NN, Dilated cardiomyopathy 1NN |
| RS80338799 | Health Risk | Pathogenic | Noonan syndrome 5, RASopathy, Noonan syndrome with multiple lentigines |
| RS121434594 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 5, Primary familial hypertrophic cardiomyopathy, Noonan syndrome |
| RS397516815 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, RAF1-related disorder |
| RS397516825 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 1 |
| RS397516826 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Cardiovascular phenotype |
| RS397516828 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Noonan syndrome 5, RASopathy |
| RS397516830 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Noonan syndrome 1 |
| RS730881002 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome and Noonan-related syndrome, RASopathy, Cardiovascular phenotype |
| RS730881003 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, RASopathy, Dilated cardiomyopathy 1NN |
| RS869025501 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Noonan syndrome 5, RASopathy |
| RS886039607 | Health Risk | Pathogenic/Likely pathogenic | LEOPARD syndrome 2, Noonan syndrome 5, Noonan syndrome |