Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.M228I
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APOL1

NM_003661.4:p.M228I

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

Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease.

McCarthy GM et al.

Disease Models & Mechanisms, 2021

Apolipoprotein L1 (APOL1) risk variant toxicity depends on the haplotype background.

Lannon H et al.

Kidney International, 2019

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

Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations.

Ko WY et al.

American Journal of Human Genetics, 2013

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."