LOINC
Version 2.71

LP71409-4BRAF geneActive

Descriptions

LP71409-4   BRAF gene
Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: Online Mendelian Inheritance in Man®, Link to OMIM

LP71409-4   BRAF gene
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

Name
BRAF gene
Type
Component
Created On
2008-10-01
Construct for LOINC Short Name
BRAF gene

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71409-4

Language Variants Get Info

zh-CNChinese (China)
BRAF 基因
Synonyms: B-Raf;原癌基因 B-Raf;proto-oncogene B-Raf;v-Raf murine sarcoma viral oncogene homolog B1;v-Raf 鼠科肉瘤病毒癌基因同源物 B1;v-Raf 小鼠肉瘤病毒癌基因同源物 B1;serine/threonine-protein kinase B-Raf;丝氨酸/苏氨酸蛋白激酶 B-Raf;丝氨酸-苏氨酸蛋白激酶 B-Raf;甲状腺癌;消化道肿瘤;皮肤黑色素瘤
nl-NLDutch (Netherlands)
BRAF-gen
Synonyms: BRAF gen
et-EEEstonian (Estonia)
BRAF geen
it-ITItalian (Italy)
BRAF, gene
Synonyms: Gene BRAF
ru-RURussian (Russian Federation)
BRAF ген
es-ESSpanish (Spain)
Gen BRAF
tr-TRTurkish (Turkey)
BRAF geni