Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.C145Y
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MID1

NM_000381.4:p.C145Y

Associated Papers

HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure.

Chunthorng-Orn J et al.

International Journal of Molecular Sciences, 2025

TRIM22 functions as a scaffold protein for autophagy initiation.

Park H et al.

Animal Cells and Systems, 2025

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

Perea-Cabrera M et al.

Molecular Genetics & Genomic Medicine, 2023

Cancer-associated mutation abolishes the impact of TRIM21 on the invasion of breast cancer cells.

Jin Y et al.

International Journal of Biological Macromolecules, 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

Structural determinants of TRIM protein function.

Esposito D et al.

Biochemical Society Transactions, 2017

MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.

Du H et al.

Plos One, 2014

MID1 mutations in patients with X-linked Opitz G/BBB syndrome.

Fontanella B et al.

Human Mutation, 2008

Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.

Tao H et al.

Biochemistry, 2008

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

Ferrentino R et al.

Human Mutation, 2007

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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."