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V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at amino acid 600. [1] [2] It is a driver mutation in a proportion of certain diagnoses, including melanoma, [3] [4] hairy cell leukemia, [5] [6] papillary thyroid carcinoma, [7] [8] colorectal cancer, [9] non-small-cell lung cancer, [10] [11] Langerhans cell histiocytosis, [12] Erdheim–Chester ...
B-Raf is a 766-amino acid, regulated signal transduction serine/threonine-specific protein kinase.Broadly speaking, it is composed of three conserved domains characteristic of the Raf kinase family: conserved region 1 (CR1), a Ras-GTP-binding [11] self-regulatory domain, conserved region 2 (CR2), a serine-rich hinge region, and conserved region 3 (CR3), a catalytic protein kinase domain that ...
The wing-spot test in D. melanogaster was first described by Graf and Würgler. [3] The wing-spot test determines for the induction of mutant spots that represent the loss of heterozygozity due to point mutation, deletion, nondisjunction, or mitotic recombination using the recessive genetic markers multiple wing hair (mwh) and flare-3 (flr3), located on chromosome number 3.
Many different companies have developed diagnostics tests based on ARMS PCR primers. For instance, Qiagen therascreen, [49] Roche cobas [50] and Biomerieux THxID [51] have developed FDA approved PCR tests for detecting lung, colon cancer and metastatic melanoma mutations in the KRAS, EGFR and BRAF genes. Their IVD kits were basically validated ...
Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...
BRAF pseudogene acts as a ceRNA. microRNAs. There are many reports of pseudogene transcripts acting as microRNA decoys. Perhaps the earliest definitive example of such a pseudogene involved in cancer is the pseudogene of BRAF. The BRAF gene is a proto-oncogene that, when mutated, is associated with many cancers. Normally, the amount of BRAF ...
[14] [15] As seen in BRAF, mutations in GNAQ/GNA11 are early events in tumorigenesis and are not prognostic for tumor stage or later metastatic spread. [16] In contrast, mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. [17] Incidence of posterior uveal melanoma is highest among people with light skin and ...
100885775 n/a Ensembl ENSG00000278910 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 9: 69.3 – 69.31 Mb n/a PubMed search n/a Wikidata View/Edit Human BRAF-activated non-protein coding RNA is a noncoding RNA that in humans is encoded by the BANCR gene. Long non-coding RNAs (lncRNAs) are involved in the intricate network of cancer and contribute ...