Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.V44M
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TMEM63B

NM_018426.3:p.V44M

Associated Papers

Structural and functional basis of mechanosensitive TMEM63 channelopathies.

Zheng W et al.

Neuron, 2025

Constitutive lipid scramblase activity underpins mechanosensitive TMEM63 channelopathies.

Brynn R et al.

Neuron, 2025

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Membrane structure-responsive lipid scramblase activity of the TMEM63/OSCA family.

Miyata Y et al.

Febs Letters, 2025

Membrane structure-responsive lipid scrambling by TMEM63B to control plasma membrane lipid distribution.

Miyata Y et al.

Nature Structural & Molecular Biology, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

Phospholipid scrambling induced by an ion channel/metabolite transporter complex.

Niu H et al.

Nature Communications, 2024

TMEM63 mechanosensitive ion channels: Activation mechanisms, biological functions and human genetic disorders.

Chen X et al.

Biochemical and Biophysical Research Communications, 2023

TMEM63 proteins function as monomeric high-threshold mechanosensitive ion channels.

Zheng W et al.

Neuron, 2023

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Vetro A et al.

American Journal of Human Genetics, 2023

Human and mouse essentiality screens as a resource for disease gene discovery.

Cacheiro P et al.

Nature Communications, 2020

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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."