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
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: 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: 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: 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: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1332977
Disease:
Childhood Leukemia
0.010 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: rs764058037
rs764058037
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE This was achieved through the retroviral-mediated transduction into normal, primary human esophageal epithelial cells of epidermal growth factor receptor (EGFR), the catalytic subunit of human telomerase (hTERT), and p53(R175H), genes that are frequently altered in human esophageal squamous cell cancer. 17974918 2007
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: 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: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We analysed the presence of the AKT1 E17K mutation in 731 cancer tissues by a single-strand conformation polymorphism assay. 18392055 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0085669
Disease:
Acute leukemia
0.010 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055 2008
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: 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: 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
dbSNP: rs8100018
rs8100018
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
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. 18813315 2008
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE To determine the prevalence of AKT E17K mutations in melanoma, the most aggressive form of skin cancer, we analysed 137 human melanoma specimens and 65 human melanoma cell lines for the previously described activating mutation of AKT1, and for analogous mutations in AKT2 and AKT3. 18813315 2008
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: rs778561687
rs778561687
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE MEK1 mutation (K57K) was found from 1 of 280 patients with lung cancer (0.4%) and detected only one case (0.4%) of AKT2 mutation (R371H) in our cohort. 20354455 2010
dbSNP: rs778561687
rs778561687
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE MEK1 mutation (K57K) was found from 1 of 280 patients with lung cancer (0.4%) and detected only one case (0.4%) of AKT2 mutation (R371H) in our cohort. 20354455 2010
dbSNP: rs778561687
rs778561687
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE MEK1 mutation (K57K) was found from 1 of 280 patients with lung cancer (0.4%) and detected only one case (0.4%) of AKT2 mutation (R371H) in our cohort. 20354455 2010
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