Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.P87L
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GJB2

NM_004004.6:p.P87L

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

pH-dependent channel gating in connexin26 hemichannels involves conformational changes in N-terminus.

Wang X et al.

Biochimica Et Biophysica Acta, 2012

Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

Ambrosi C et al.

Biophysical Journal, 2010

Structure of the connexin 26 gap junction channel at 3.5 A resolution.

Maeda S et al.

Nature, 2009

Role of connexin (gap junction) genes in cell growth control: approach with site-directed mutagenesis and dominant-negative effects.

Omori Y et al.

Toxicology Letters, 1998

Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes.

Duflot-Dancer A et al.

Oncogene, 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."