Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.R1042C
Back to variants list

ADAR

NM_001111.5:p.R1042C

Associated Papers

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

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Wang W et al.

World Journal of Pediatrics : Wjp, 2022

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

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

A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.

Hayashi M et al.

Archives of Dermatological Research, 2010

Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.

Xu Q et al.

Archives of Dermatological Research, 2010

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."