Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.N388del1
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APOL1

NM_003661.4:p.N388del1

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Advances in kidney disease: pathogenesis and therapeutic targets.

Boima V et al.

Frontiers in Medicine, 2025

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

Zhu JY et al.

Disease Models & Mechanisms, 2023

Apolipoprotein L1 risk genotypes in Ghanaian patients with systemic lupus erythematosus: a prospective cohort study.

Blazer A et al.

Lupus Science & Medicine, 2021

Maternal variants within the apolipoprotein L1 gene are associated with preeclampsia in a South African cohort of African ancestry.

Thakoordeen-Reddy S et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2020

APOL1 Genetic Variants Are Associated with Serum-Oxidized Low-Density Lipoprotein Levels and Subclinical Atherosclerosis in South African CKD Patients.

Hassan MO et al.

Nephron, 2020

Fetal-Not Maternal-APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancestry.

Reidy KJ et al.

American Journal of Human Genetics, 2018

30173819 (PubMed )
Supplement: mmc1.pdf

ApoL1 renal risk variants induce aberrant THP-1 monocyte differentiation and increase eicosanoid production via enhanced expression of cyclooxygenase-2.

Lee H et al.

American Journal of Physiology. Renal Physiology, 2018

Apolipoprotein L1 Variant Associated with Increased Susceptibility to Trypanosome Infection.

Cuypers B et al.

Mbio, 2016

APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans.

Kasembeli AN et al.

Journal of the American Society of Nephrology : Jasn, 2015

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.

Anderson BR et al.

Plos Genetics, 2015

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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."