Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Gene Location [1]
14q32.33
Pathway
PI3K/AKT1/MTOR
Variant Type
Substitution - Missense
Affected Exon Number
2
Gene
AKT1
Protein Domain [2]
PH
SIFT Prediction [3]
Tolerated
ClinVar Prediction [3]
Pathogenic

AKT1 E17K is present in 0.93% of AACR GENIE cases, with breast carcinoma, uterine corpus neoplasm, colorectal adenocarcinoma, non-small cell lung carcinoma, and meningioma having the greatest prevalence [4].

Top Disease Cases with AKT1 E17K

Significance of AKT1 E17K in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.