Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.R570L
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XPR1

NM_004736.4:p.R570L

Associated Papers

The identification of XPR1 as a voltage- and phosphate-activated phosphate-permeable ion channel.

Wu H et al.

Nature Communications, 2025

Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.

Zuo P et al.

Nature Communications, 2025

40128258 (PubMed )
Supplement: 41467_2025_58200_MOESM1_ESM.pdf

Structural insights into the mechanism of phosphate recognition and transport by XPR1.

Zhang W et al.

Nature Communications, 2025

The identification of XPR1 as a voltage- and phosphate-activated phosphate-permeable ion channel.

Wu H et al.

Research Square, 2024

A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant.

Orimo K et al.

Journal of the Neurological Sciences, 2023

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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."