RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE Here, we describe how the hyperactivation of Rac1 via the P29S mutation (Rac1<sup>P29S</sup>) in melanoma hijacks branched actin network assembly to coordinate proliferative cues that facilitate metastasis and drug resistance. 31063759 2019
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE A point mutation (P29S) in the RAS-related C3 botulinum toxin substrate 1 (RAC1) was considered to be a trigger for melanoma, a form of skin cancer with highest mortality rate. 27699663 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE RAC1 P29S regulates PD-L1 expression in melanoma. 26176707 2015
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE RAC1 is a GTPase member of the RAS superfamily, and RAC1(P29S) was recently identified as the third most common recurrent mutation in melanomas, affecting 4-7% of the patients. 25465943 2015
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE Conversely, RNAi-mediated silencing of endogenous RAC1 P29S in a melanoma cell line with a co-occurring BRAF V600 mutation increased sensitivity to vemurafenib and dabrafenib. 25056119 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.070 GeneticVariation BEFREE The melanoma RAC1(P29S) gain-of-function point mutation therefore represents a previously undescribed class of cancer-related GTPase activity. 23284172 2013