Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.D164Y
Back to variants list

XPR1

NM_004736.4:p.D164Y

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

Human XPR1 structures reveal phosphate export mechanism.

Yan R et al.

Nature, 2024

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Guo XX et al.

Human Mutation, 2019

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."