Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.R459C
Back to variants list

XPR1

NM_004736.4:p.R459C

Associated Papers

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

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

Zhu Q et al.

Nature Communications, 2025

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

Zhang W 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

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM et al.

European Journal of Human Genetics : Ejhg, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."