RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 GeneticVariation disease BEFREE RAC1 P29 is the third most commonly mutated codon in human cutaneous melanoma, after BRAF V600 and NRAS Q61. 31257073 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 GeneticVariation disease BEFREE Whole exome sequencing of cutaneous melanoma has led to the detection of P29 mutations in RAC1 in 5-9% of samples, but the role of RAC1 P29 mutations in melanoma biology remains unclear. 26176707 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 GeneticVariation disease BEFREE Furthermore, we provide new results showing that RAC1, a gene recently found harboring UV-hallmark mutation in skin melanoma, is also mutated in uveal melanoma. 23981010 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 GeneticVariation disease BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 CausalMutation disease CGI