Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.A870T
Back to variants list

ADAR

NM_001111.5:p.A870T

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

Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.

Al Wardat S et al.

Genes & Diseases, 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

Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype.

Padmanabha H et al.

Parkinsonism & Related Disorders, 2023

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

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

de Reuver R et al.

Cell Reports, 2021

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

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J et al.

Journal of Clinical Medicine, 2019

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

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

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

La Piana R et al.

American Journal of Medical Genetics. Part A, 2014

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

Rice GI et al.

Nature Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."