Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474

2016

dbSNP: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
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: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs11554290
rs11554290
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: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902

2013