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 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
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 		T 0.800 CausalMutation CLINVAR
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: 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: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease:
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		T 0.800 CausalMutation CLINVAR
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: 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: 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: 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: 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: 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: 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: 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: rs2304186
rs2304186
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE There is no significant relationship between rs2304186 and type 2 diabetes in the Chinese Han population. 21518566 2011
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: 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: rs3730051
rs3730051
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.010 GeneticVariation BEFREE Minor allele carriers of SNPs rs3730051 and rs8100018 had increased odds of PCOS (odds ratio [OR] 2.2, P = 0.004, and 2.4, P = 0.001, respectively). 18768676 2008