Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
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
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0025202
Disease: melanoma
melanoma 		0.070 GeneticVariation BEFREE RAC1 P29S regulates PD-L1 expression in melanoma. 26176707

2015
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0025202
Disease: melanoma
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
RAC1
CUI: C0025202
Disease: melanoma
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
RAC1
CUI: C0025202
Disease: melanoma
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
RAC1
CUI: C0025202
Disease: melanoma
melanoma 		0.070 GeneticVariation BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693

2014
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0025202
Disease: melanoma
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
RAC1
CUI: C0025202
Disease: melanoma
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
RAC1
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation BEFREE Impact of point mutation P29S in RAC1 on tumorigenesis. 27699663

2016
dbSNP: rs1057519874
rs1057519874
RAC1
CUI: C0596263
Disease: Carcinogenesis
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: rs1057519874
rs1057519874
RAC1
CUI: C0027651
Disease: Neoplasms
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
RAC1
CUI: C0007114
Disease: Malignant neoplasm of skin
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
RAC1
CUI: C0027627
Disease: Neoplasm Metastasis
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: rs1057519948
rs1057519948
RAC1
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519948
rs1057519948
RAC1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016