Varaico: Literature-Extracted Genetic Variants

Gene:AKT1
Variant:p.E17delins
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AKT1

NM_001382430.1:p.E17delins

Associated Papers

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Erwin AL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.

Modlin EW et al.

American Journal of Medical Genetics. Part A, 2022

Sclerosing Polycystic Adenoma of Salivary Glands: A Novel Neoplasm Characterized by PI3K-AKT Pathway Alterations-New Insights Into a Challenging Entity.

Skálová A et al.

The American Journal of Surgical Pathology, 2022

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.

Lindhurst MJ et al.

Human Molecular Genetics, 2020

Allelic heterogeneity of Proteus syndrome.

Buser A et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."