Varaico: Literature-Extracted Genetic Variants

Gene:CALHM1
Variant:p.R154H
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CALHM1

NM_001001412.4:p.R154H

Associated Papers

Structure of human CALHM1 reveals key locations for channel regulation and blockade by ruthenium red.

Syrjänen JL et al.

Nature Communications, 2023

On the molecular nature of large-pore channels.

Syrjanen J et al.

Journal of Molecular Biology, 2021

The NH2 terminus regulates voltage-dependent gating of CALHM ion channels.

Tanis JE et al.

American Journal of Physiology. Cell Physiology, 2017

Calcium homeostasis modulator (CALHM) ion channels.

Ma Z et al.

Pflugers Archiv : European Journal of Physiology, 2016

Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and Aβ levels.

Vingtdeux V et al.

Plos One, 2014

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.

Rubio-Moscardo F et al.

Plos One, 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."