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: 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: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease:
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.800 GeneticVariation UNIPROT An activating mutation of AKT2 and human hypoglycemia. 21979934 2011
dbSNP: rs121434593
rs121434593
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. 19164855 2009
dbSNP: rs121434593
rs121434593
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT A family with severe insulin resistance and diabetes due to a mutation in AKT2. 15166380 2004
dbSNP: rs121434593
rs121434593
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease:
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		T 0.800 CausalMutation CLINVAR
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: 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: 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: rs778561687
rs778561687
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		T 0.700 GeneticVariation CLINVAR AKT1 and AKT2 mutations in lung cancer in a Japanese population. 21479466 2012
dbSNP: rs1057519754
rs1057519754
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Colorectal cancer: mutations in a signalling pathway. 16094359 2005
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.020 GeneticVariation BEFREE Despite the major role of the AKT/PKB family of proteins in the regulation of many growth and survival mechanisms in the cell, and the increasing evidence suggesting that AKT disruption could play a key role in many human malignancies, no major mutations of AKT genes had been reported, until very recently when Carpten et al reported a novel transforming mutation (E17K) in the pleckstrin homology domain of the AKT1 gene in solid tumours. 18665177 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.020 GeneticVariation BEFREE An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ovarian cancers. 18392055 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023418
Disease:
leukemia 		0.020 GeneticVariation BEFREE The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. 18665177 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.020 GeneticVariation BEFREE Overall, we detected the four AKT1 E17K</span> mutations in the breast cancers (4/93; 4.3%), but none in other cancers. 18392055 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0023418
Disease:
leukemia 		0.020 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701 2007
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.020 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701 2007
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