Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W133R
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GJB1

NM_000166.6:p.W133R

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

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_

Defining a minimal motif required to prevent connexin oligomerization in the endoplasmic reticulum.

Maza J et al.

The Journal of Biological Chemistry, 2005

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Wang HL et al.

Neurobiology of Disease, 2004

Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43.

Lagree V et al.

Journal of Cell Science, 2003

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

Dubourg O et al.

Neuromuscular Disorders : Nmd, 2001

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P et al.

Neurogenetics, 1997

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

Rouger H et al.

Human Mutation, 1997

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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."