Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Vemurafenib has been extensively tested on melanoma patients expressing the BRAFV600E mutated form; it has been demonstrated to be also effective in inhibiting melanomas carrying the V600K mutation. 22554099

2012

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Amongst BRAF-mutant melanoma, the frequency of non-V600E genotypes (including V600K) increased with increasing age. 22535154

2012

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE One (6·7%, 0·2-31·9) of 15 patients with Val600Lys BRAF-mutant melanoma achieved an overall intracranial response in cohort A, as did four (22·2%, 6·4-47·6) of 18 such patients in cohort B. Treatment-related adverse events of grade 3 or worse occurred in 38 (22%) patients. 23051966

2012

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation. 22809251

2012

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. 20925915

2010

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Downstream of Ras, the serine/threonine kinase B-raf has been reported to be mutated, among other carcinomas, in a substantial subset of primary melanomas with a preponderance of mutations within the kinase domain including the activating V599E and V599K transitions. 15935100

2005

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases. 16179870

2005

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE Tumor-specific tandem mutations, encoding either V599K, V599R, or V599E, were found in 5 of 17 (29%) melanomas with BRAF exon 15 mutations. 15140228

2004

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003