| AgACC | Ag003716 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | BRAF |
| Full Name | B-Raf proto-oncogene serine/threonine-protein kinase |
| Synonym | 94 kDa B-raf protein; B-raf, Murine sarcoma viral (v-raf) oncogene homolog B1; v-raf murine sarcoma viral oncogene homolog B1; BRAF; B-Raf; B-raf-1; BRAF1; EC 2.7.11.1; MGC126806; MGC138284; RAFB1; p94
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- 94 kDa B-raf protein
- B-raf, Murine sarcoma viral (v-raf) oncogene homolog B1
- v-raf murine sarcoma viral oncogene homolog B1
- BRAF
- B-Raf
- B-raf-1
- BRAF1
- EC 2.7.11.1
- MGC126806
- MGC138284
- RAFB1
- p94
|
| UniProt ID | P15056
|
| NCBI Gene ID | 673 |
| GeneCard ID | GC07M140719 |
| SwissProt VARIANT ID | VAR_026114 |
| Comment | Cardiofaciocutaneous syndrome (CFC syndrome) - Defects in BRAF are a cause of cardiofaciocutaneous syndrome; also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant |
| Annotation | This is a fragment sequence. |
| Mutation entries | Ag000229, Ag000738, Ag000739, Ag000740, Ag000741, Ag000742, Ag000743, Ag000744, Ag000745, Ag000746, Ag000747, Ag000748, Ag000749, Ag000750, Ag000751, Ag000752
... Display all entries
Ag000753, Ag000754, Ag000755, Ag000756, Ag000757, Ag000758, Ag000759, Ag000760, Ag000761, Ag000762, Ag000763, Ag000764, Ag000765, Ag000766, Ag000767, Ag000768, Ag000769, Ag000770, Ag000771, Ag000772, Ag000773, Ag000774, Ag000775, Ag000776, Ag000777, Ag000778, Ag000779, Ag000780, Ag000781, Ag000782, Ag000783, Ag000784, Ag000785, Ag000786, Ag000787, Ag000788, Ag000789, Ag000790, Ag000791, Ag000792, Ag000793, Ag000794, Ag000795, Ag000796, Ag000797, Ag000798, Ag000799, Ag000800, Ag000801, Ag000802, Ag000803, Ag000804, Ag000805, Ag000806, Ag000807, Ag000808, Ag000809, Ag000810, Ag003715, Ag003716, Ag003717, Ag003718, Ag003719, Ag003720, Ag003721, Ag003722, Ag003723, Ag003724, Ag003725
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | FVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVP |
| Antigen sequence | FVRKTFFTLAFCDFCRKLLFRGFRCQTCGYKFHQRCSTEVP |
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