Version 2.78

Part Description

LP268094-2   BRAF gene.p.Val600Lys
The Val600Lys (V600K) mutation [COSMIC ID: 473] results in an amino acid substitution from a valine (V) to a lysine (K) in the BRAF gene (B-Raf proto-oncogene, serine/threonine kinase).[HGNC Gene ID:1097] The mutation causes a conformational change in the BRAF protein's G-loop activation segment of the kinase domain that makes it constitutively active and resistant to negative feedback signals. The identification of V600* mutations and their effects have led to the creation of targeted therapeutics, including vemurafenib, dabrafenib, and trametinib for the treatment of V600-mutated melanoma. The prevalence of V600 BRAF mutations that are V600K in melanoma tumors ranges across studies from 6-30%. PMID: 20630094 In addition to melanoma, BRAF mutations have been associated with a range of other cancers, including colorectal cancer (CRC), non-small-cell lung cancer (NSCLC), thyroid cancer, hairy cell leukemia (HCL), and multiple myeloma. PMID: 24955706 Source: Regenstrief LOINC

Fully-Specified Name

Component
BRAF gene.p.Val600Lys
Property
PrThr
Time
Pt
System
Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
BRAF p.V600K Tiss Ql
Display Name
BRAF gene p.Val600Lys Molgen Ql (Tiss)
Consumer Name Alpha Get Info
BRAF gene p.Val600Lys, Tissue

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen BRAF p.Val600Lys:PrThr:Punto temporal:Tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen BRAF p. Val600Lys:Presencia o umbral:Punto temporal:Tejido y frotis:Ordinal:Genética molecular
fr-FR French (France) BRAF gène p.Val600Lys:Présence/Seuil:Ponctuel:Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) BRAF, gene.p.Val600Lys:PrThr:Pt:Tessuto:Ord:Molgen
Synonyms: Gene BRAF Gene BRAF p.Val600Lys Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Tessuto & Strisci
zh-CN Chinese (China) BRAF 基因.p.Val600Lys:存在情况或阈值:时间点:组织与涂片:序数型:分子遗传学类实验室方法
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 P 型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=89861-9