Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K125R
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GJB2

NM_004004.6:p.K125R

Associated Papers

Multiple carbamylation events are required for differential modulation of Cx26 hemichannels and gap junctions by CO2.

Nijjar S et al.

The Journal of Physiology, 2025

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

Opposing modulation of Cx26 gap junctions and hemichannels by CO2.

Nijjar S et al.

The Journal of Physiology, 2021

Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.

Lilly E et al.

Journal of Dermatological Science, 2019

Structural determinants of CO2-sensitivity in the β connexin family suggested by evolutionary analysis.

Dospinescu VM et al.

Communications Biology, 2019

CO₂directly modulates connexin 26 by formation of carbamate bridges between subunits.

Meigh L et al.

Elife, 2013

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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."