Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.L1014R
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CUL7

NM_014780.5:p.L1014R

Associated Papers

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

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

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 syndrome.

Huber C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

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

Huber C et al.

European Journal of Human Genetics : Ejhg, 2009

Identification of mutations in CUL7 in 3-M syndrome.

Huber C et al.

Nature Genetics, 2005

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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."