Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913237
rs121913237
CUI: C0025202
Disease: melanoma
melanoma
0.740 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: rs121913237
rs121913237
CUI: C0025202
Disease: melanoma
melanoma
0.740 GeneticVariation BEFREE In a limited validation of potentially actionable low frequency mutations, a NRAS G12D mutation in a melanoma was shown to be a false positive. 24885028

2014

dbSNP: rs121913237
rs121913237
CUI: C0025202
Disease: melanoma
melanoma
0.740 GeneticVariation BEFREE At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). 23382536

2013

dbSNP: rs121913237
rs121913237
CUI: C0025202
Disease: melanoma
melanoma
0.740 GeneticVariation BEFREE To produce a mouse model of NRAS-driven melanoma, we expressed oncogenic NRAS (NRAS(G12D)) in mouse melanocytes. 23303902

2013