BRAF Chromosome 7
B-Raf proto-oncogene, serine/threonine kinase
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What This Gene Does
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Mitogen-activated protein kinase kinase kinases|RAF family"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000157764
Associated Conditions (98)
Dabrafenib response
Neoplasm
Noonan syndrome
RASopathy
Cardiovascular phenotype
6 conditions
Noonan syndrome and Noonan-related syndrome
BRAF-related disorder
Lung adenocarcinoma
Non-small cell lung carcinoma
Noonan syndrome 7
Epidermal nevus
Embryonal rhabdomyosarcoma
Cardio-facio-cutaneous syndrome
Noonan syndrome 1
LEOPARD syndrome 3
Cardiofaciocutaneous syndrome 1
Global developmental delay
7 conditions
See cases
+78 more conditions
Key Variants
RS1586126439
drug response
Dabrafenib response, Neoplasm, Dabrafenib response
Drug Response
RS1008080053
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, Cardiovascular phenotype
Health Risk
RS1037323084
Conflicting classifications of pathogenicity
RASopathy, 6 conditions, RASopathy
Health Risk
RS1057518105
Conflicting classifications of pathogenicity
Health Risk
RS1057520665
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1158725219
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, RASopathy, Cardiovascular phenotype
Health Risk
RS121913351
Conflicting classifications of pathogenicity
Lung adenocarcinoma, Non-small cell lung carcinoma, RASopathy
Health Risk
RS121913361
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, RASopathy, Noonan syndrome and Noonan-related syndrome
Health Risk
RS121913369
Conflicting classifications of pathogenicity
Non-small cell lung carcinoma, Noonan syndrome 7, Cardio-facio-cutaneous syndrome
Health Risk
RS1222192591
Conflicting classifications of pathogenicity
RASopathy, 6 conditions, Cardiovascular phenotype
Health Risk
RS1255101216
Conflicting classifications of pathogenicity
Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 1
Health Risk
RS1320075163
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
All Variants (146)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1585998247 | Health Risk | Pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS1801030116 | Health Risk | Pathogenic | Lip and oral cavity carcinoma, Lip and oral cavity carcinoma |
| RS180177032 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS180177033 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS180177034 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS180177035 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, RASopathy, Cardio-facio-cutaneous syndrome |
| RS180177036 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS180177042 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, Inborn genetic diseases, Noonan syndrome 7 |
| RS2128999571 | Health Risk | Pathogenic | Pineoblastoma, Pineoblastoma |
| RS2129018408 | Health Risk | Pathogenic | Colorectal cancer, RASopathy, Colorectal cancer |
| RS2129019628 | Health Risk | Pathogenic | Vascular malformation, Vascular malformation |
| RS2535998776 | Health Risk | Pathogenic | Lymphatic malformation, Lymphatic malformation |
| RS387906660 | Health Risk | Pathogenic | Noonan syndrome 7, Noonan syndrome 1, Noonan syndrome |
| RS397507465 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, RASopathy, Embryonal rhabdomyosarcoma |
| RS397507466 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, LEOPARD syndrome 3, RASopathy |
| RS397507475 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Noonan syndrome and Noonan-related syndrome, 7 conditions |
| RS397507476 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome |
| RS397507477 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, Noonan syndrome |
| RS397507481 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome, Inborn genetic diseases |
| RS397507483 | Health Risk | Pathogenic | RASopathy, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS397507484 | Health Risk | Pathogenic | RASopathy, Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 1 |
| RS397507486 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 1 |
| RS397509343 | Health Risk | Pathogenic | Noonan syndrome and Noonan-related syndrome, Noonan syndrome, RASopathy |
| RS397516890 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397516894 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome |
| RS397516903 | Health Risk | Pathogenic | Noonan syndrome, Cardio-facio-cutaneous syndrome, Noonan syndrome and Noonan-related syndrome |
| RS606231228 | Health Risk | Pathogenic | Noonan syndrome 7, RASopathy, Noonan syndrome 1 |
| RS727502902 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Neoplasm of the large intestine, Childhood ganglioglioma |
| RS869025606 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome |
| RS121913357 | Health Risk | Pathogenic/Likely pathogenic | Non-Hodgkin lymphoma, Cardio-facio-cutaneous syndrome, Non-small cell lung carcinoma |
| RS121913378 | Health Risk | Pathogenic/Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma, Myoepithelial tumor |
| RS180177037 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, RASopathy, Noonan syndrome and Noonan-related syndrome |
| RS180177039 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome, 10 conditions |
| RS180177041 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome, Genetic syndrome with a Dandy-Walker malformation as major feature |
| RS2129044284 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, Noonan syndrome 7, RASopathy |
| RS387906661 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3, Noonan syndrome with multiple lentigines |
| RS397507469 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Cardio-facio-cutaneous syndrome, Inborn genetic diseases |
| RS397507470 | Health Risk | Pathogenic/Likely pathogenic | RASopathy, RASopathy |
| RS397507473 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, RASopathy, Cardiofaciocutaneous syndrome 1 |
| RS397507474 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome |
| RS397516892 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, Neurodevelopmental delay, Cardiofaciocutaneous syndrome 1 |
| RS397516893 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, Inborn genetic diseases, RASopathy |
| RS397516895 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1 |
| RS397516904 | Health Risk | Pathogenic/Likely pathogenic | Cardio-facio-cutaneous syndrome, Noonan syndrome, RASopathy |
| RS794729219 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, Prostate cancer, hereditary |
| RS869025340 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 7, Melanoma, Cardiofaciocutaneous syndrome 1 |