Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.D522E
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ATG7

NM_001349232.2:p.D522E

Associated Papers

Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.

Greer SU et al.

Scientific Reports, 2022

Autophagy regulation by RNA alternative splicing and implications in human diseases.

González-Rodríguez P et al.

Nature Communications, 2022

A novel region within a conserved domain in ATG7 emerged in vertebrates.

Hjaltalin VJ et al.

Autophagy Reports, 2022

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs
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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."