Varaico: Literature-Extracted Genetic Variants

Gene:TRIM2
Variant:p.D667A
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TRIM2

NM_015271.5:p.D667A

Associated Papers

Divergent self-association properties of paralogous proteins TRIM2 and TRIM3 regulate their E3 ligase activity.

Esposito D et al.

Nature Communications, 2022

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.

Magri S et al.

Journal of the Peripheral Nervous System : Jpns, 2020

A recessive Trim2 mutation causes an axonal neuropathy in mice.

Li JJ et al.

Neurobiology of Disease, 2020

TRIM E3 Ubiquitin Ligases in Rare Genetic Disorders.

Meroni G

Advances in Experimental Medicine and Biology, 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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

Pehlivan D et al.

Human Genetics, 2015

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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."