89861-9BRAF gene p.Val600Lys [Presence] in Tissue by Molecular genetics methodActive
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
- 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
- zh-CNChinese (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 - fr-FRFrench (France)
- BRAF gène p.Val600Lys:
Présence/Seuil: Ponctuel: Tissu: Qualitatif: Biologie moléculaire - it-ITItalian (Italy)
- BRAF, gene.p.Val600Lys:
PrThr: Pt: Tessuto: Ord: Molgen - es-MXSpanish (Mexico)
- Gen BRAF p. Val600Lys:
Presencia o umbral: Punto temporal: Tejido y frotis: Ordinal: Genética molecular - es-ESSpanish (Spain)
- Gen BRAF p.Val600Lys:
PrThr: Punto temporal: Tejido: Ord: Genética molecular
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=89861-9
LOINC Copyright
Copyright © 2022 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright