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: C0151779
Disease:
Cutaneous Melanoma
0.710 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 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 The melanoma RAC1(P29S) gain-of-function point mutation therefore represents a previously undescribed class of cancer-related GTPase activity. 23284172 2013
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 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 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 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: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Impact of point mutation P29S in RAC1 on tumorigenesis. 27699663 2016
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Rac1 P29S mutant is known to strongly promote oncogenesis by facilitating its intrinsic GDP dissociation and thereby increasing the level of the GTP-bound state. 30891502 2019
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE Children with IBD treated with thiopurines were prospectively followed for 1 year and were genotyped for 3 Rac1 SNPs previously found to be relevant to IBD: rs10951982, rs4720672, and rs34932801. 25885881 2015
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE Patients with inflammatory bowel disease who had the rs10951982 risk allele had increased expression of RAC1 compared to those without this allele. 21684284 2011
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Enforced expression of RAC1 P29S in sensitive BRAF-mutant melanoma cell lines confers resistance manifested by increased viability, decreased apoptosis, and enhanced tumor growth in vivo upon treatment with RAF inhibitors. 25056119 2014
dbSNP: rs1057519874
rs1057519874
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.010 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: C0027627
Disease:
Neoplasm Metastasis
0.010 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: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE In multivariate logistic regression, <i>RAC1</i> rs10951982 (OR 6.15, 95% CI: 2.98 to 13.41; <i>p</i> < 0.001) remained significantly associated with increased risk of melanoma. 29342889 2018
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE The other three SNPs (rs10951982, rs6954996, and rs9374), in all comparison models, were not associated with ESRD risk (P > 0.05). 26841219 2016
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE We observed a genetic association between RAC1 with ulcerative colitis in a discovery cohort, 2 independent replication cohorts, and in combined analysis for the single nucleotide polymorphisms rs10951982 (P(combined UC) = 3.3 × 10(-8), odds ratio = 1.43 [95% confidence interval: 1.26-1.63]) and rs4720672 (P(combined UC) = 4.7 × 10(-6), odds ratio = 1.36 [95% confidence interval: 1.19-1.58]). 21684284 2011
dbSNP: rs10951982
rs10951982
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE The other three SNPs (rs10951982, rs6954996, and rs9374), in all comparison models, were not associated with ESRD risk (P > 0.05). 26841219 2016
dbSNP: rs12536544
rs12536544
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE RAC1 rs836554, rs4720672, and rs12536544 polymorphisms may be novel and useful genetic markers to predict the toxicity induced by platinum-based chemotherapy in lung cancer patients. 27299748 2016
dbSNP: rs12536544
rs12536544
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE RAC1 rs836554, rs4720672, and rs12536544 polymorphisms may be novel and useful genetic markers to predict the toxicity induced by platinum-based chemotherapy in lung cancer patients. 27299748 2016
dbSNP: rs12536544
rs12536544
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE RAC1 rs836554, rs4720672, and rs12536544 polymorphisms may be novel and useful genetic markers to predict the toxicity induced by platinum-based chemotherapy in lung cancer patients. 27299748 2016
dbSNP: rs1554263624
rs1554263624
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025958
Disease:
Microcephaly
0.010 GeneticVariation BEFREE In silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.Cys18Tyr and p.Asn39Ser RAC1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo. 28886345 2017
dbSNP: rs1554264268
rs1554264268
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0025958
Disease:
Microcephaly
0.010 GeneticVariation BEFREE Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p.Cys157Tyr) variants, were microcephalic, with head circumferences between -2.5 to -5 SD. 28886345 2017
dbSNP: rs4720672
rs4720672
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE We observed a genetic association between RAC1 with ulcerative colitis in a discovery cohort, 2 independent replication cohorts, and in combined analysis for the single nucleotide polymorphisms rs10951982 (P(combined UC) = 3.3 × 10(-8), odds ratio = 1.43 [95% confidence interval: 1.26-1.63]) and rs4720672 (P(combined UC) = 4.7 × 10(-6), odds ratio = 1.36 [95% confidence interval: 1.19-1.58]). 21684284 2011