Varaico: Literature-Extracted Genetic Variants

Gene:AKNA
Variant:p.P624L
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AKNA

NM_001317950.2:p.P624L

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

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

Vujkovic M et al.

Nature Genetics, 2022

Pan-genomic characterization of high-risk pediatric papillary thyroid carcinoma.

Stenman A et al.

Endocrine-related Cancer, 2021

33827048 (PubMed )
Supplement: supplementary_table_1.xlsx › Blad1

The association of AKNA gene polymorphisms with knee osteoarthritis suggests the relevance of this immune response regulator in the disease genetic susceptibility.

Martínez-Nava GA et al.

Molecular Biology Reports, 2018

HIF1A (rs11549465) and AKNA (rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren's Syndrome.

Hernández-Molina G et al.

Biomed Research International, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
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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."