Varaico: Literature-Extracted Genetic Variants

Gene:CRBN
Variant:p.C391R
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CRBN

NM_016302.4:p.C391R

Associated Papers

The CB1 receptor interacts with cereblon and drives cereblon deficiency-associated memory shortfalls.

Costas-Insua C et al.

Embo Molecular Medicine, 2024

Cereblon-mediated degradation of the amyloid precursor protein via the ubiquitin-proteasome pathway.

Kurihara T et al.

Biochemical and Biophysical Research Communications, 2020

Cereblon attenuates DNA damage-induced apoptosis by regulating the transcription-independent function of p53.

Zhou L et al.

Cell Death & Disease, 2019

Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.

Donovan KA et al.

Elife, 2018

Cereblon Maintains Synaptic and Cognitive Function by Regulating BK Channel.

Choi TY et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

CRL4 antagonizes SCFFbxo7-mediated turnover of cereblon and BK channel to regulate learning and memory.

Song T et al.

Plos Genetics, 2018

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

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

Sheereen A et al.

Journal of Medical Genetics, 2017

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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."