AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3730256
rs3730256
Entrez Id: 208;107985289
Gene Symbol: AKT2;LOC107985289
AKT2;LOC107985289
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We identified four SNPs (IRS1 rs1801123, IRS1 rs1801278, AKT2 rs3730256, and AKT2 rs7247515) and two lifestyle factors (age and percentage calories from saturated fatty acids) as the top six most influential predictors for CRC risk. 30649085 2019
dbSNP: rs7247515
rs7247515
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We identified four SNPs (IRS1 rs1801123, IRS1 rs1801278, AKT2 rs3730256, and AKT2 rs7247515) and two lifestyle factors (age and percentage calories from saturated fatty acids) as the top six most influential predictors for CRC risk. 30649085 2019
dbSNP: rs3730050
rs3730050
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0686377
Disease:
CNS metastases
0.010 GeneticVariation BEFREE Multivariate analysis showed associations between AKT1-rs3803304, AKT2-rs3730050, PDK1-rs11686903 and PI3KR1-rs706716 and CNS metastasis . 29103666 2017
dbSNP: rs7250897
rs7250897
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The CT/CC genotypes of <i>AKT2</i> rs7250897 C>T were associated with an increased risk of PCa, particularly in subgroups of age >71 and BMI >24 kg/m<sup>2</sup>. 28977864 2017
dbSNP: rs7250897
rs7250897
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The CT/CC genotypes of <i>AKT2</i> rs7250897 C>T were associated with an increased risk of PCa, particularly in subgroups of age >71 and BMI >24 kg/m<sup>2</sup>. 28977864 2017
dbSNP: rs9710247
rs9710247
Entrez Id: 208;107985289
Gene Symbol: AKT2;LOC107985289
AKT2;LOC107985289
CUI: C0428883
Disease:
Diastolic blood pressure
G 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0020615
Disease:
Hypoglycemia
0.010 GeneticVariation BEFREE The p.Glu17Lys mutation of AKT2 confers low-level constitutive activity upon the kinase and produces hypoglycemia with suppressed fatty acid release from adipose tissue, but not fatty liver, hypertriglyceridemia, or elevated hepatic de novo lipogenesis.Hypoglycemia may spontaneously remit. 28541532 2017
dbSNP: rs11880261
rs11880261
Entrez Id: 208;693226
Gene Symbol: AKT2;MIR641
AKT2;MIR641
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs16974157
rs16974157
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7247515
rs7247515
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7250897
rs7250897
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs969531
rs969531
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1153706
Disease:
Endometrial adenocarcinoma
0.010 GeneticVariation BEFREE Compound 21a also served as a potent inhibitor of the AKT1-E17K mutant protein and inhibited tumor growth in a human xenograft mouse model of endometrial adenocarcinoma. 27305487 2016
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Compound 21a also served as a potent inhibitor of the AKT1-E17K mutant protein and inhibited tumor growth in a human xenograft mouse model of endometrial adenocarcinoma. 27305487 2016
dbSNP: rs2304186
rs2304186
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE We selected five potentially functional SNPs in AKT1 (rs2494750, rs2494752 and rs10138277) and AKT2 (rs7254617 and rs2304186) genes and investigated their associations with ESCC risk in 1117 ESCC cases and 1096 controls in an Eastern Chinese population. 26828791 2016
dbSNP: rs7254617
rs7254617
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE We selected five potentially functional SNPs in AKT1 (rs2494750, rs2494752 and rs10138277) and AKT2 (rs7254617 and rs2304186) genes and investigated their associations with ESCC risk in 1117 ESCC cases and 1096 controls in an Eastern Chinese population. 26828791 2016
dbSNP: rs1057519754
rs1057519754
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0009404
Disease:
Colorectal Neoplasms
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs778561687
rs778561687
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121434593
rs121434593
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873 2013
dbSNP: rs121434593
rs121434593
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs7254617
rs7254617
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE When estimated these two SNPs together, the combined genotypes with 2-4 risk alleles (rs2295080 T and rs7254617 A alleles) were associated with an increased risk of PCa compared with 0-1 risk alleles, which was more pronounced among subgroups of age >71 years, smokers, drinkers and no family history of cancer. 22815832 2012
dbSNP: rs7254617
rs7254617
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE When estimated these two SNPs together, the combined genotypes with 2-4 risk alleles (rs2295080 T and rs7254617 A alleles) were associated with an increased risk of PCa compared with 0-1 risk alleles, which was more pronounced among subgroups of age >71 years, smokers, drinkers and no family history of cancer. 22815832 2012
dbSNP: rs7254617
rs7254617
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE When estimated these two SNPs together, the combined genotypes with 2-4 risk alleles (rs2295080 T and rs7254617 A alleles) were associated with an increased risk of PCa compared with 0-1 risk alleles, which was more pronounced among subgroups of age >71 years, smokers, drinkers and no family history of cancer. 22815832 2012
dbSNP: rs7254617
rs7254617
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE When estimated these two SNPs together, the combined genotypes with 2-4 risk alleles (rs2295080 T and rs7254617 A alleles) were associated with an increased risk of PCa compared with 0-1 risk alleles, which was more pronounced among subgroups of age >71 years, smokers, drinkers and no family history of cancer. 22815832 2012
dbSNP: rs892119
rs892119
Entrez Id: 208;107985289
Gene Symbol: AKT2;LOC107985289
AKT2;LOC107985289
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE (2) In Cox regression analyses, three SNPs (PIK3R1 rs1862162, AKT2 rs892119, and PIK3CA rs2699887) showed significant associations with survival of endometrial cancer patients. 22146979 2012