Varaico: Literature-Extracted Genetic Variants

Gene:AKAP12
Variant:p.E1600D
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AKAP12

NM_005100.4:p.E1600D

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Integrated proteogenomic approach identifying a protein signature of COPD and a new splice variant of SORBS1.

Brandsma CA et al.

Thorax, 2020

31937552 (PubMed )
Supplement: thoraxjnl-2019-213200supp001.pdf
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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."