CHROMOSOME 14 AKT1 14q32.33 GENE VIEW AKT1 · 14q32.33 14q31 14q33 rs2494752 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2494752 A / G · AKT1 · 14q32.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs2494752

Gene: AKT1 — AKT Serine/Threonine Kinase 1 Chr 14:104797271 14q32.33 2KB upstream variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.1128G 0.8872AA 0.020309AG/GA 0.184981GG 0.79471pop=551,180
African A 0.19942G 0.80058AA 0.039533AG/GA 0.319777GG 0.640689pop=56,408
African American A 0.19798G 0.80202AA 0.039042AG/GA 0.317883GG 0.643075pop=54,454
African Others A 0.2395G 0.7605AA 0.053224AG/GA 0.372569GG 0.574207pop=1,954
Asian A 0.59355G 0.40645AA 0.362239AG/GA 0.462619GG 0.175142pop=10,540
East Asian A 0.6261G 0.3739AA 0.403195AG/GA 0.445789GG 0.151016pop=8,264
European A 0.079489G 0.920511AA 0.006079AG/GA 0.14682GG 0.847101pop=436,222
Latin American 1 A 0.1483G 0.8517AA 0.026239AG/GA 0.244121GG 0.72964pop=10,290
Latin American 2 A 0.26184G 0.73816AA 0.072931AG/GA 0.377822GG 0.549247pop=18,072
Other A 0.16673G 0.83327AA 0.035456AG/GA 0.262547GG 0.701998pop=16,020
Other Asian A 0.4754G 0.5246AA 0.213533AG/GA 0.523726GG 0.262742pop=2,276
South Asian A 0.2933G 0.7067AA 0.093164AG/GA 0.400221GG 0.506615pop=3,628

Studies30

Unread Studies30
1
Triggering PI3K signaling cascade is most common in human cancers. This study aimed to screen the association of seven SNPs and two hotspot mutations, clinical outcome and …
2
… However, in association with survival outcomes, AKT1 rs2494752 G/G genotype has a shorter disease-free survival and overall survival time, respectively p = 0.044 and p = 0.005 in the …
3
… previously, no data were discovered for the genotypes rs2494752 for AKT, rs2699887 for PIK3CA, and … AKT1 rs2494752 AG genotyping carriers demonstrated reduced DFS time. [28] …
4
Cancer is a global medical challenge, and research is at its peak to understand the unique mechanisms of cancer cells. The expanding field of epidemiology, including …
5
… Our findings demonstrated that AKT1 rs2494732-C and rs2494752-G were beneficial alleles related to low NAFLD risk, but no association of rs1130233 with NAFLD risk was found. …
6
Excessive energy intake has been shown to affect the mammalian target of the rapamycin (mTOR) signaling pathway and breast cancer risk. It is not well understood …
7
Obesity is known to stimulate the mammalian target of rapamycin (mTOR) signaling pathway and both obesity and the mTOR signaling pathway are implicated in breast …
8
Colorectal cancer is one of the leading causes of cancer-associated mortality across the worldwide. One of the major challenges in colorectal cancer is the understanding of the …
9
Cancers arising within the gastrointestinal tract are complex disorders involving genetic events that cause the conversion of normal tissue to premalignant lesions and …
10
… AKT1 基因多态位点rs2494746 和rs2494752基因频率在病例组… rs2494752 在隐性模型下,携带 G 等位基因个体患脑膜瘤风险增加(… 结论AKT1 基因多态位点rs2494746 和rs2494752 与脑膜瘤…
11
… Genetic variations in AKT gene (eg rs1130233, rs2498801, rs2494752) is linked with various types of cancers including liver, lungs and bladder cancers.These polymorphic forms of …
12
… Akt1 rs2294750 alone or in combination with two other Akt1 SNPs (rs2494752, rs10138277) can jointly combat ESCC, especially in women and non-alcoholic ESCC patients (11). …
13
Gastric cancer (GC) is one of the most common and deadly malignant tumors worldwide. While the application of herbal drugs for GC treatment is increasing, the multicompound–…
14
LMTK3 and AKT1 each have a role in carcinogenesis and tumor progression. The analysis of single nucleotide polymorphisms of AKT1 and LMTK3 could lead to more …
15
Cancer is basically uncontrolled proliferation of cells with altered genetic constituents accompanied by migration from one part of the body to another due to loss of their binding ability …
16
… Moreover, AKT1 rs2494752 GG markedly increased rates of response … rs2494752 GG and C increased the risk factors of HCC. In conclusion, these results indicate that AKT1 rs2494752 …
17
Over 250 million people are infected chronically with hepatitis B virus (HBV), the leading cause of liver cancer worldwide. HBV persists, due, in part, to its compact, stable …
18
… AKT rs2494752 AG genotype was observed among cases (P=0.045). Individuals harboring rs2494752 AG/… More importantly, AKT1 rs2494752 GG genotype showed significantly rates of …
19
Stomach adenocarcinoma (STAD) is a common malignancy worldwide. This study aimed to identify the aberrantly expressed long non-coding RNAs (lncRNAs) in STAD. Results …
20
The serine/threonine protein kinase B (PKB), also known as Akt, is one of the multifaceted kinases in the human kinome, existing in three isoforms. PKB plays a vital role in …
21
Previous studies have reported that XPC gene polymorphisms may modify the individual susceptibility to gastric cancer. In this case–control study with a total of 1,142 cases and 1,173 …
22
Mouse double minute 4 (MDM4) is a p53-interacting oncoprotein that plays an important role in the p53 tumor suppressor pathway. The common rs4245739 A > C polymorphism …
23
Literature suggests that genetic variants associated with increased susceptibility to gastric cancer (GCa) are mostly located in genes involved in carcinogenesis and possibly tumor …
24
v-akt Murine thymoma viral oncogene homolog (AKT) pathway is critically involved in cancer cell growth, invasion, and survival. We examined the correlation between the …
25
There is strong evidence that genetic variation influences the risk of testicular germ cell tumor (TGCT). The oncogene AKT1, tumor suppressor gene PTEN and the 8q24 …
26
Is there an association between testicular germ cell tumor (TGCT) and genetic polymorphisms in AKT1, PTEN and the 8q24 locus? SUMMARY ANSWER Our …
27
Both transforming growth factor-β receptor I (TGFBR1) and receptor II (TGFBR2) are serine/threonine kinases and play important roles in TGF-β/Smads signal pathway. The case–…
28
O Autismo é um perturbação do desenvolvimento infantil que se caracteriza por desvios na interacção social e na comunicação verbal e não verbal, assim como, por comportamentos …
29
… Wei, A functional polymorphism (rs2494752) in the AKT1 promoter region and gastric adenocarcinoma risk in an eastern Chinese population OPEN. https://doi.org/10.1038/srep20008, …
30
The aim of this study is to reveal the mechanism of Xuefuzhuyu oral liquid in treating thrombotic diseases and to explore its effective antithrombotic active ingredients. The Traditional …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.