Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.P151L
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MID1

NM_000381.4:p.P151L

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

B-box1 Domain of MID1 Interacts with the Ube2D1 E2 Enzyme Differently Than RING E3 Ligases.

Kaur A et al.

Biochemistry, 2023

The MID1 gene product in physiology and disease.

Baldini R et al.

Gene, 2020

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__Potential_pathogenic

Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.

Wright KM et al.

The Febs Journal, 2017

Mechanism of midline defect-causing mutation P151L in MID1 revealed.

Nicholson LK

The Febs Journal, 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

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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."