Varaico: Literature-Extracted Genetic Variants

Gene:AKAP13
Variant:p.K526Q
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AKAP13

NM_007200.5:p.K526Q

Associated Papers

Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.

Pacheco Y et al.

Cells, 2021

34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.

Suryavanshi SV et al.

Journal of Cardiovascular Development and Disease, 2018

Protein Kinase A-induced tamoxifen resistance is mediated by anchoring protein AKAP13.

Bentin Toaldo C et al.

Bmc Cancer, 2015

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.

Wirtenberger M et al.

Carcinogenesis, 2007

Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.

Wirtenberger M et al.

Carcinogenesis, 2006

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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."