Varaico: Literature-Extracted Genetic Variants

Gene:AKT2
Variant:p.R467W
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AKT2

NM_001626.6:p.R467W

Associated Papers

Computational evaluation of AKT2 mutations reveals R274H and R467W as potential drivers of protein instability and inhibitor resistance in cancer therapy.

Runa SA et al.

Plos One, 2025

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

Al Delbany D et al.

Cells, 2024

39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J

In Silico Investigation of AKT2 Gene and Protein Abnormalities Reveals Potential Association with Insulin Resistance and Type 2 Diabetes.

Elangeeb ME et al.

Current Issues in Molecular Biology, 2023

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Manning A et al.

Diabetes, 2017

Central players in inherited lipodystrophies.

Jeninga EH et al.

Trends in Endocrinology and Metabolism: Tem, 2010

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.

Tan K et al.

Diabetes, 2007

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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."