Varaico: Literature-Extracted Genetic Variants

Gene:RING1
Variant:p.R95Q
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RING1

NM_002931.4:p.R95Q

Associated Papers

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Borges RL et al.

Molecular Cell, 2026

RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.

Ryan CW et al.

Nature Communications, 2024

H2A monoubiquitination: insights from human genetics and animal models.

Ryan CW et al.

Human Genetics, 2024

RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.

Doyle LA et al.

Epigenomes, 2022

The Polycomb group gene rnf2 is essential for central and enteric neural system development in zebrafish.

Feng G et al.

Frontiers in Neuroscience, 2022

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce SB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

Blanchard MG et al.

Journal of Medical Genetics, 2015

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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."