LP268094-2
BRAF gene.p.Val600Lys
Active
Description
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
Basic Part Properties
- Part Display Name
- BRAF gene p.Val600Lys
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-07-18
- Construct for LOINC Short Name
- BRAF p.V600K
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen BRAF p.Val600Lys |
| it-IT | Italian (Italy) | BRAF, gene.p.Val600Lys Synonyms: Gene BRAF p.Val600Lys |
| zh-CN | Chinese (China) | BRAF 基因.p.Val600Lys |
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