Varaico: Literature-Extracted Genetic Variants

Gene:ATG10
Variant:p.T212M
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ATG10

NM_031482.5:p.T212M

Associated Papers

Computational analysis identifies pathogenic nsSNPs in ATG10, an E2-like ubiquitin-conjugating enzyme of the autophagy pathway.

Arpna et al.

International Journal of Biological Macromolecules, 2026

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer.

Bali JS et al.

Molecular Biology Reports, 2024

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.

Grosjean I et al.

Autophagy, 2022

35383530 (PubMed )
Supplement: supplement_1.pdf

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.

Bueno-Martínez E et al.

Bmc Cancer, 2022

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions.

Yu Z et al.

Scientific Reports, 2018

29967346 (PubMed )
Supplement: 41598_2018_28369_MOESM1_ESM.pdf

Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma.

Fernández-Mateos J et al.

Scientific Reports, 2017

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

Polymorphisms in autophagy genes are associated with paget disease of bone.

Usategui-Martín R et al.

Plos One, 2015

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-AO-A0JC-01A.domain

Large-scale profiling and identification of potential regulatory mechanisms for allelic gene expression in colorectal cancer cells.

Lee RD et al.

Gene, 2013

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

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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."