Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This study thus defined SPRY4 as a potential mediator of synthetic suppression, which is likely to contribute to the observed exclusivity between BRAF(V600E) and NRAS(Q61R) mutations in melanoma. 30651601

2019

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The activating NRAS p.Q61R variant is a known "hotspot" variant, frequently identified in several types of human cancer, especially melanoma. 30542204

2019

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The rarity of HRAS and KRAS Q61R mutants in malignant melanoma</span> let previous investigations erroneously conclude that SP174 is specific for NRAS Q61R-mutant protein. 29206715

2018

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We present the clinical course, unique morphology, angiogenic properties, growth characteristics using in vivo experiments and 3D cell culture, and results of the exome gene sequencing of an intensively pigmented melanogenic cell line MUG-Mel2, derived from a cutaneous metastasis of an aggressive NRAS p. Q61R mutated melanoma. 28522871

2017

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We observed an increase in NRAS mutant allele percentage (NRAS-MA%) in the metastatic melanoma progression from 2 patients with melanomas harbouring a NRAS mutation (p.Q61K in case 1 and p.Q61R in case 2). 26990546

2016

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Genetic analysis revealed an activating NRAS Q61R mutation within the melanoma, which is more commonly associated with large or giant congenital melanocytic nevi. 27573553

2016

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Formalin-fixed and paraffin-embedded melanoma tissues were analyzed for BRAF and NRAS mutations by independent, blinded observers using both conventional DNA molecular techniques and immunohistochemistry with the novel anti-human N-Ras (Q61R) monoclonal antibody (clone SP174). 25341653

2015

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Here, we report that guanosine monophosphate synthase (GMPS), an enzyme required for the de novo biosynthesis of GMP, has a major role in invasion and tumorigenicity of cells derived from either BRAF(V600E) or NRAS(Q61R) human metastatic melanomas. 25909885

2015

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In our study, we showed that combining immunohistochemistry analysis targeting NRAS(Q61R) and BRAF(V600E) proteins with molecular analysis was a reliable theranostic tool to face challenging samples of melanoma. 26204954

2015

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). 25048604

2014

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). 23704925

2013

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively. 23855428

2013

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
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: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Reciprocally, overexpression of C-MYC in normal melanocytes suppressed BRAF(V600E)-induced senescence more efficiently than NRAS(Q61R)-induced senescence, which agrees with the generally higher rates of activating mutations in BRAF than NRAS gene in human cutaneous me</span>lanomas. 18679422

2008

dbSNP: rs1057519834
rs1057519834
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We studied global gene expression in three melanoma cell lines with the most common and potent V600E mutation in the B-RAF gene-four cell lines with a common Q61R mutation in the N-RAS gene and three cell lines with no mutations using human HG-U133A 2.0 micro-arrays with 22 277 transcripts. 15760917

2005