Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.I629S
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XPR1

NM_004736.4:p.I629S

Associated Papers

Transport and InsP8 gating mechanisms of the human inorganic phosphate exporter XPR1.

Zhu Q et al.

Nature Communications, 2025

Structural basis of phosphate export by human XPR1.

He Q et al.

Nature Communications, 2025

Human XPR1 structures reveal phosphate export mechanism.

Yan R et al.

Nature, 2024

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.

López-Sánchez U et al.

Scientific Reports, 2019

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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."