Varaico: Literature-Extracted Genetic Variants

Gene:RNF125
Variant:p.M112I
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RNF125

NM_017831.4:p.M112I

Associated Papers

Zinc finger 1 of the RING E3 ligase, RNF125, interacts with the E2 to enhance ubiquitylation.

Middleton AJ et al.

Structure (london, England : 1993), 2023

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Tenorio-Castaño JA et al.

Clinical Genetics, 2021

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

A C2HC zinc finger is essential for the RING-E2 interaction of the ubiquitin ligase RNF125.

Bijlmakers MJ et al.

Scientific Reports, 2016

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J et al.

Human Mutation, 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."