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
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
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
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
G 0.800 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

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
A 0.800 CausalMutation CLINVAR NRAS-mutant melanoma: response to chemotherapy. 21576590

2011

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
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
C 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

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

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR Furthermore, PLX4032 increased the rate of proliferation of growth factor-dependent NRAS Q61L mutant primary melanoma cells, reduced cell adherence and increased mobility of cells from advanced lesions. 20149136

2010

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 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
C 0.800 CausalMutation CLINVAR NRAS-mutant melanoma: response to chemotherapy. 21576590

2011

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 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 First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
A 0.800 CausalMutation CLINVAR First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012

dbSNP: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 0.800 CausalMutation CLINVAR First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012

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
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: rs11554290
rs11554290
CUI: C0025202
Disease: melanoma
melanoma
C 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 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
A 0.800 CausalMutation CLINVAR Differential sensitivity of melanoma cell lines with BRAFV600E mutation to the specific Raf inhibitor PLX4032. 20406486

2010