Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.N173S
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ADAR

NM_001111.5:p.N173S

Associated Papers

A loss-of-function human ADAR variant activates innate immune response and promotes bowel inflammation.

Xu P et al.

Nature Communications, 2025

Z-Form Stabilization By The Zα Domain Of Adar1p150 Has Subtle Effects On A-To-I Editing.

Nichols PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.

Liu X et al.

Biochemical Genetics, 2024

Novel insights into double-stranded RNA-mediated immunopathology.

de Reuver R et al.

Nature Reviews. Immunology, 2024

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.

Ge H et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing.

Guo X et al.

Cell Reports, 2023

Differential Structural Features of Two Mutant ADAR1p150 Zα Domains Associated with Aicardi-Goutières Syndrome.

Langeberg CJ et al.

Journal of Molecular Biology, 2023

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

Nakahama T et al.

International Immunology, 2023

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Liu L et al.

Frontiers in Pediatrics, 2022

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

Nakahama T et al.

International Journal of Molecular Sciences, 2021

Protein kinase R and the integrated stress response drive immunopathology caused by mutations in the RNA deaminase ADAR1.

Maurano M et al.

Immunity, 2021

ADAR1 edits the SenZ and SenZ-ability of RNA.

Zillinger T et al.

Immunity, 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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Cardiac valve involvement in ADAR-related type I interferonopathy.

Crow Y et al.

Journal of Medical Genetics, 2020

Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR.

Herbert A

European Journal of Human Genetics : Ejhg, 2020

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

Rice GI et al.

Neuropediatrics, 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

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

Livingston JH et al.

Journal of Medical Genetics, 2014

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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."