Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.Y1112F
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ADAR

NM_001111.5:p.Y1112F

Associated Papers

Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome.

Guo X et al.

Iscience, 2026

Biochemical profiling and structural basis of ADAR1-mediated RNA editing.

Deng X et al.

Molecular Cell, 2025

Structural impacts of two disease-linked ADAR1 mutants: a molecular dynamics study.

Huang WC et al.

Journal of Computer-aided Molecular Design, 2024

Novel insights into double-stranded RNA-mediated immunopathology.

de Reuver R et al.

Nature Reviews. Immunology, 2024

Impact of Disease-Associated Mutations on the Deaminase Activity of ADAR1.

Karki A et al.

Biochemistry, 2024

The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.

Nakahama T et al.

International Immunology, 2023

The role of RNA editing enzyme ADAR1 in human disease.

Song B et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Deciphering the Biological Significance of ADAR1-Z-RNA Interactions.

Nakahama T et al.

International Journal of Molecular Sciences, 2021

A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2021

33406242 (PubMed )
Supplement: gkaa1223_supplemental_files.zip › GalkaMarciniak_Suppl_Table_S3.xlsx › Supplementare_TAble_S3

RNA Editing in Interferonopathies.

Frassinelli L et al.

Methods in Molecular Biology (clifton, N.j.), 2021

Adenosine-to-inosine RNA editing in the immune system: friend or foe?

Nakahama T et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI et al.

Neuropediatrics, 2017

Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures.

Fisher AJ et al.

Rna Biology, 2017

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets.

Forni D et al.

Rna Biology, 2015

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI et al.

Nature Genetics, 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."