Version 2.78

Description

The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] is located on chromosome 7q34. This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:673] Loss of the BRAF gene can be determined by various techniques, and loss of the protein, which is an indicator of gene mutation or deletion, can be detected by immunohistochemistry techniques. Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
BRAF protein
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-04-29
Construct for LOINC Short Name
BRAF protein

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP212224-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 丝氨酸-苏氨酸蛋白激酶 B-raf
Synonyms: STK B-raf
es-ES Spanish (Spain) B-raf serina-treonina protein quinasa
it-IT Italian (Italy) Serina-treonina proteina chinasi B-raf
Synonyms: Proteina BRAF