Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.I872T
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ADAR

NM_001111.5:p.I872T

Associated Papers

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

RNA Editing in Interferonopathies.

Frassinelli L et al.

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

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

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

Livingston JH et al.

Journal of Medical Genetics, 2014

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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