Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 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: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRNA expression data to identify potential regulatory pathways associated with the most common driver mutations in NRAS (Q61K/L/R) through comparison of NRASQ61-mutated melanomas with pan-negative melanomas. 25537510

2015

dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations. 25857817

2015

dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. 25189354

2015

dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE Strikingly, the administration of BI-69A11 inhibited melanoma development in genetically modified mice bearing an inducible form of activated Nras and a deletion of the Ink4a gene (Nras((Q61K)) ::Ink4a(-/-) ). 23035722

2013

dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE Molecular genetic analysis, including DNA sequencing and CGH, revealed that both areas contained an identical NRAS Q61K mutation and had highly similar CGH profiles, including gains of chromosome 1q and losses of 1p, 4, 9, and 10, which are archetypical of melanoma. 21836492

2011

dbSNP: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 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: rs121913254
rs121913254
CUI: C0025202
Disease: melanoma
melanoma
0.780 GeneticVariation BEFREE In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. 18668139

2009