Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.R255K
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APOL1

NM_003661.4:p.R255K

Associated Papers

The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.

Simeone CA et al.

G3 (bethesda, Md.), 2025

Protein-truncating variant in APOL3 increases chronic kidney disease risk in epistasis with APOL1 risk alleles.

Zhang DY et al.

Jci Insight, 2024

39163132 (PubMed )
Supplement: jciinsight-9-181238-s145.xlsx › Supp._Table_1

Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression.

Gupta N et al.

Scientific Reports, 2024

APOL1-G2 accelerates nephrocyte cell death by inhibiting the autophagy pathway.

Zhu JY et al.

Disease Models & Mechanisms, 2023

Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.

Gerstner L et al.

Kidney International, 2022

Apolipoprotein L1 Variant Associated with Increased Susceptibility to Trypanosome Infection.

Cuypers B et al.

Mbio, 2016

Sequencing rare and common APOL1 coding variants to determine kidney disease risk.

Limou S et al.

Kidney International, 2015

BH3 domain-independent apolipoprotein L1 toxicity rescued by BCL2 prosurvival proteins.

Heneghan JF et al.

American Journal of Physiology. Cell Physiology, 2015

Human apolipoprotein L1 (ApoL1) in cancer and chronic kidney disease.

Hu CA et al.

Febs Letters, 2012

Advances in our understanding of the pathogenesis of HIV-1 associated nephropathy in children.

Ray PE et al.

Future Virology, 2011

ApoL1, a BH3-only lipid-binding protein, induces autophagic cell death.

Zhaorigetu S et al.

Autophagy, 2008

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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."