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 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

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 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
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: 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 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 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 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: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

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
A 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
G 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008