Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.Q186*
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ADAR

NM_001111.5:p.Q186*

Associated Papers

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

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

Nakahama T et al.

International Immunology, 2023

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

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

Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.

Wang P et al.

Molecular Genetics & Genomic Medicine, 2019

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

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.

Liu Q et al.

Bmc Medical Genetics, 2014

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