Varaico: Literature-Extracted Genetic Variants

Gene:MID2
Variant:p.R347Q
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MID2

NM_012216.4:p.R347Q

Associated Papers

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.

Kharrat M et al.

Journal of Human Genetics, 2024

TRIM E3 Ubiquitin Ligases in Rare Genetic Disorders.

Meroni G

Advances in Experimental Medicine and Biology, 2020

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

The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division.

Gholkar AA et al.

Cell Reports, 2016

Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

Li B et al.

Molecular Genetics & Genomic Medicine, 2016

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.

Geetha TS 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."