Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.E40K
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AKT1

NM_001382430.1:p.E40K

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

Allosteric PI3Kα Inhibition Overcomes On-target Resistance to Orthosteric Inhibitors Mediated by Secondary PIK3CA Mutations.

Varkaris A et al.

Cancer Discovery, 2024

Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study.

Zhang R et al.

Life (basel, Switzerland), 2023

37511907 (PubMed )
Supplement: life-13-01532-s001.zip › Supplementary_Table_S4.pdf

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › HR_HER2-__mutations_

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_7.xlsx › Sheet1

AKT mutant allele-specific activation dictates pharmacologic sensitivities.

Shrestha Bhattarai T et al.

Nature Communications, 2022

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Capivasertib, an AKT Kinase Inhibitor, as Monotherapy or in Combination with Fulvestrant in Patients with AKT1 E17K-Mutant, ER-Positive Metastatic Breast Cancer.

Smyth LM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.

Mack PC et al.

Cancer, 2020

Mortalin (HSPA9) facilitates BRAF-mutant tumor cell survival by suppressing ANT3-mediated mitochondrial membrane permeability.

Wu PK et al.

Science Signaling, 2020

AKT1 internal tandem duplications and point mutations are the genetic hallmarks of sclerosing pneumocytoma.

Yeh YC et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx › Fig_1e

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Dalton WB et al.

Jco Precision Oncology, 2017

A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors.

Bessière L et al.

Ebiomedicine, 2015

Myocardial fat overgrowth in Proteus syndrome.

Hannoush H et al.

American Journal of Medical Genetics. Part A, 2015

Disruption of mindin exacerbates cardiac hypertrophy and fibrosis.

Bian ZY et al.

Journal of Molecular Medicine (berlin, Germany), 2012

AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate with E17K.

Askham JM et al.

Oncogene, 2010

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

Cardiac regulation by phosphoinositide 3-kinases and PTEN.

Oudit GY et al.

Cardiovascular Research, 2009

Interplay between impaired calcium regulation and insulin signaling abnormalities in diabetic cardiomyopathy.

Lebeche D et al.

Nature Clinical Practice. Cardiovascular Medicine, 2008

Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.

Tang G et al.

Human Molecular Genetics, 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

Casein kinase 2-interacting protein-1, a novel Akt pleckstrin homology domain-interacting protein, down-regulates PI3K/Akt signaling and suppresses tumor growth in vivo.

Tokuda E et al.

Cancer Research, 2007

The role of phosphoinositide-3 kinase and PTEN in cardiovascular physiology and disease.

Oudit GY et al.

Journal of Molecular and Cellular Cardiology, 2004

Akt-dependent phosphorylation of p27Kip1 promotes binding to 14-3-3 and cytoplasmic localization.

Fujita N et al.

The Journal of Biological Chemistry, 2002

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."