Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.C166S
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KCNJ11

NM_000525.4:p.C166S

Associated Papers

Kir6.2 channel activity is regulated by interaction of transmembrane domains 1 and 2 through I167 in the bundle-crossing gate.

Kawashima R et al.

Physiological Reports, 2025

Dynamic duo: Kir6 and SUR in KATP channel structure and function.

Patton BL et al.

Channels (austin, Tex.), 2024

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Nature Communications, 2024

Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Biorxiv : the Preprint Server for Biology, 2024

KATP channels in focus: Progress toward a structural understanding of ligand regulation.

Martin GM et al.

Current Opinion in Structural Biology, 2023

Oxidation Driven Reversal of PIP2-dependent Gating in GIRK2 Channels.

Lee SJ et al.

Function (oxford, England), 2023

Ligand-mediated Structural Dynamics of a Mammalian Pancreatic KATP Channel.

Sung MW et al.

Journal of Molecular Biology, 2022

The dynamic interplay of PIP2 and ATP in the regulation of the KATP channel.

Pipatpolkai T et al.

The Journal of Physiology, 2022

Evaluating inositol phospholipid interactions with inward rectifier potassium channels and characterising their role in disease.

Pipatpolkai T et al.

Communications Chemistry, 2020

36703430 (PubMed )
Supplement: 42004_2020_391_MOESM2_ESM.pdf

Nucleotide inhibition of the pancreatic ATP-sensitive K+ channel explored with patch-clamp fluorometry.

Usher SG et al.

Elife, 2020

Computational Identification of Novel Kir6 Channel Inhibitors.

Chen X et al.

Frontiers in Pharmacology, 2019

Cryo-electron microscopy structures and progress toward a dynamic understanding of KATP channels.

Puljung MC

The Journal of General Physiology, 2018

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

Cooper PE et al.

The Journal of Biological Chemistry, 2017

A Conserved Residue Cluster That Governs Kinetics of ATP-dependent Gating of Kir6.2 Potassium Channels.

Zhang RS et al.

The Journal of Biological Chemistry, 2015

Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels.

Li JB et al.

The Journal of Biological Chemistry, 2013

A Kir6.2 pore mutation causes inactivation of ATP-sensitive potassium channels by disrupting PIP2-dependent gating.

Bushman JD et al.

Plos One, 2013

Molecular mechanisms of chloroquine inhibition of heterologously expressed Kir6.2/SUR2A channels.

Ponce-Balbuena D et al.

Molecular Pharmacology, 2012

Mechanisms for Kir channel inhibition by quinacrine: acute pore block of Kir2.x channels and interference in PIP2 interaction with Kir2.x and Kir6.2 channels.

López-Izquierdo A et al.

Pflugers Archiv : European Journal of Physiology, 2011

Tamoxifen inhibits cardiac ATP-sensitive and acetylcholine-activated K+ currents in part by interfering with phosphatidylinositol 4,5-bisphosphate-channel interaction.

Ponce-Balbuena D et al.

Journal of Pharmacological Sciences, 2010

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

Proks P et al.

Human Molecular Genetics, 2007

Subunit-stoichiometric evidence for kir6.2 channel gating, ATP binding, and binding-gating coupling.

Wang R et al.

Molecular Pharmacology, 2007

ATP-sensitive K+ channels: regulation of bursting by the sulphonylurea receptor, PIP2 and regions of Kir6.2.

Ribalet B et al.

The Journal of Physiology, 2006

Kir6.2 channel gating by intracellular protons: subunit stoichiometry for ligand binding and channel gating.

Wang R et al.

The Journal of Membrane Biology, 2006

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Proks P et al.

Human Molecular Genetics, 2005

Differential nucleotide regulation of KATP channels by SUR1 and SUR2A.

Masia R et al.

Journal of Molecular and Cellular Cardiology, 2005

Determinant role of membrane helices in K ATP channel gating.

Wang R et al.

The Journal of Membrane Biology, 2005

Molecular basis of inward rectification: polyamine interaction sites located by combined channel and ligand mutagenesis.

Kurata HT et al.

The Journal of General Physiology, 2004

Gating dependence of inner pore access in inward rectifier K(+) channels.

Phillips LR et al.

Neuron, 2003

The ligand-sensitive gate of a potassium channel lies close to the selectivity filter.

Proks P et al.

Embo Reports, 2003

Mechanism of Kir6.2 channel inhibition by sulfhydryl modification: pore block or allosteric gating?

Cui Y et al.

The Journal of Physiology, 2002

Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.

Proks P et al.

The Journal of General Physiology, 2001

Requirement of multiple protein domains and residues for gating K(ATP) channels by intracellular pH.

Piao H et al.

The Journal of Biological Chemistry, 2001

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.

Reimann F et al.

The Journal of Physiology, 1999

Molecular analysis of ATP-sensitive K channel gating and implications for channel inhibition by ATP.

Trapp S et al.

The Journal of General Physiology, 1998

Molecular determinants of KATP channel inhibition by ATP.

Tucker SJ et al.

The Embo Journal, 1998

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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."