Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.P861S
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CUL7

NM_014780.5:p.P861S

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Structure of CRL7FBXW8 reveals coupling with CUL1-RBX1/ROC1 for multi-cullin-RING E3-catalyzed ubiquitin ligation.

Hopf LVM et al.

Nature Structural & Molecular Biology, 2022

Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.

Wang P et al.

The Journal of Clinical Investigation, 2019

The 3M complex maintains microtubule and genome integrity.

Yan J et al.

Molecular Cell, 2014

CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity.

Li Z et al.

Molecular Cell, 2014

The 3M syndrome.

Huber C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C et al.

European Journal of Human Genetics : Ejhg, 2009

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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."