Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.K179M
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AKT1

NM_001382430.1:p.K179M

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay.

Koukourakis MI et al.

Current Oncology (toronto, Ont.), 2023

Lipin-1 stability and its adipogenesis functions are regulated in contrasting ways by AKT1 and LKB1.

Un Nisa M et al.

Journal of Cell Communication and Signaling, 2023

Interactions between mTORC2 core subunits Rictor and mSin1 dictate selective and context-dependent phosphorylation of substrate kinases SGK1 and Akt.

Yu Z et al.

The Journal of Biological Chemistry, 2022

A role for AKT1 in nonsense-mediated mRNA decay.

Palma M et al.

Nucleic Acids Research, 2021

Retinoid Metabolism in the Degeneration of Pten-Deficient Mouse Retinal Pigment Epithelium.

Kim YJ et al.

Molecules and Cells, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

A growth-factor-activated lysosomal K+ channel regulates Parkinson's pathology.

Wie J et al.

Nature, 2021

RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation.

Li T et al.

Nature Communications, 2021

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › Primary_private

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

AKT2 is the predominant AKT isoform expressed in human skeletal muscle.

Matheny RW et al.

Physiological Reports, 2018

UBE2S, a novel substrate of Akt1, associates with Ku70 and regulates DNA repair and glioblastoma multiforme resistance to chemotherapy.

Hu L et al.

Oncogene, 2017

BECN1/Beclin 1 sorts cell-surface APP/amyloid β precursor protein for lysosomal degradation.

Swaminathan G et al.

Autophagy, 2016

Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Kopetz S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

26460303 (PubMed )
Supplement: supp_33.34.4032_DS_2015.632497.pdf

Akt Phosphorylates Wnt Coactivator and Chromatin Effector Pygo2 at Serine 48 to Antagonize Its Ubiquitin/Proteasome-mediated Degradation.

Li Q et al.

The Journal of Biological Chemistry, 2015

PI3K/AKT activation induces PTEN ubiquitination and destabilization accelerating tumourigenesis.

Lee MS et al.

Nature Communications, 2015

The T-box transcription factor, TBX3, is a key substrate of AKT3 in melanomagenesis.

Peres J et al.

Oncotarget, 2015

Akt1 mediates α-smooth muscle actin expression and myofibroblast differentiation via myocardin and serum response factor.

Abdalla M et al.

The Journal of Biological Chemistry, 2013

Candidate tumor suppressor and pVHL partner Jade-1 binds and inhibits AKT in renal cell carcinoma.

Zeng L et al.

Cancer Research, 2013

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

23633454 (PubMed )
Supplement: 10780432ccr130163-sup-tab1-3.pdf

AKT activation by N-cadherin regulates beta-catenin signaling and neuronal differentiation during cortical development.

Zhang J et al.

Neural Development, 2013

The activity of the androgen receptor variant AR-V7 is regulated by FOXO1 in a PTEN-PI3K-AKT-dependent way.

Mediwala SN et al.

The Prostate, 2013

Disruption of PH-kinase domain interactions leads to oncogenic activation of AKT in human cancers.

Parikh C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

ATM-dependent ERK signaling via AKT in response to DNA double-strand breaks.

Khalil A et al.

Cell Cycle (georgetown, Tex.), 2011

Phosphatidylinositol 3-kinase-dependent activation of mammalian protein kinase B/Akt in Saccharomyces cerevisiae, an in vivo model for the functional study of Akt mutations.

Rodríguez-Escudero I et al.

The Journal of Biological Chemistry, 2009

PTEN regulation by Akt-EGR1-ARF-PTEN axis.

Yu J et al.

The Embo Journal, 2009

AKT is activated in an ataxia-telangiectasia and Rad3-related-dependent manner in response to temozolomide and confers protection against drug-induced cell growth inhibition.

Caporali S et al.

Molecular Pharmacology, 2008

Akt/PKB interacts with the histone H3 methyltransferase SETDB1 and coordinates to silence gene expression.

Gao H et al.

Molecular and Cellular Biochemistry, 2007

The eIF2alpha kinases PERK and PKR activate glycogen synthase kinase 3 to promote the proteasomal degradation of p53.

Baltzis D et al.

The Journal of Biological Chemistry, 2007

Akt mediates the effect of insulin on epithelial sodium channels by inhibiting Nedd4-2.

Lee IH et al.

The Journal of Biological Chemistry, 2007

Akt1 signaling regulates integrin activation, matrix recognition, and fibronectin assembly.

Somanath PR et al.

The Journal of Biological Chemistry, 2007

p27Kip1 localization depends on the tumor suppressor protein tuberin.

Rosner M et al.

Human Molecular Genetics, 2007

Ultraviolet B-induced matrix metalloproteinase-1 and -3 secretions are mediated via PTEN/Akt pathway in human dermal fibroblasts.

Oh JH et al.

Journal of Cellular Physiology, 2006

The RNA-binding protein KSRP promotes decay of beta-catenin mRNA and is inactivated by PI3K-AKT signaling.

Gherzi R et al.

Plos Biology, 2006

Novel roles of Akt and mTOR in suppressing TGF-beta/ALK5-mediated Smad3 activation.

Song K et al.

The Embo Journal, 2006

Reconstitution of the mammalian PI3K/PTEN/Akt pathway in yeast.

Rodríguez-Escudero I et al.

The Biochemical Journal, 2005

Akt1 contains a functional leucine-rich nuclear export sequence.

Saji M et al.

Biochemical and Biophysical Research Communications, 2005

Mitochondrial H2O2 regulates the angiogenic phenotype via PTEN oxidation.

Connor KM et al.

The Journal of Biological Chemistry, 2005

Protein kinase B activity is sufficient to mimic the effect of insulin on glucagon gene transcription.

Schinner S et al.

The Journal of Biological Chemistry, 2005

Defective insulin secretion and increased susceptibility to experimental diabetes are induced by reduced Akt activity in pancreatic islet beta cells.

Bernal-Mizrachi E et al.

The Journal of Clinical Investigation, 2004

Insulin-response element-binding protein 1: a novel Akt substrate involved in transcriptional action of insulin.

Villafuerte BC et al.

The Journal of Biological Chemistry, 2004

Insulin-like growth factor-I inhibits transcriptional responses of transforming growth factor-beta by phosphatidylinositol 3-kinase/Akt-dependent suppression of the activation of Smad3 but not Smad2.

Song K et al.

The Journal of Biological Chemistry, 2003

Preferential killing of PTEN-null myelomas by PI3K inhibitors through Akt pathway.

Zhang J et al.

Oncogene, 2003

11,12-Epoxyeicosatrienoic acid-induced inhibition of FOXO factors promotes endothelial proliferation by down-regulating p27Kip1.

Potente M et al.

The Journal of Biological Chemistry, 2003

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

Chen HK et al.

Cell, 2003

Heregulin-beta1 regulates the estrogen receptor-alpha gene expression and activity via the ErbB2/PI 3-K/Akt pathway.

Stoica GE et al.

Oncogene, 2003

Akt/protein kinase B is regulated by autophosphorylation at the hypothetical PDK-2 site.

Toker A et al.

The Journal of Biological Chemistry, 2000

Akt activation by growth factors is a multiple-step process: the role of the PH domain.

Bellacosa A et al.

Oncogene, 1998

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