Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.Y389del1
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APOL1

NM_003661.4:p.Y389del1

Associated Papers

Apolipoprotein L1 (APOL1): Consideration of Molecular Evolution, Interaction with APOL3, and Impact of Splice Isoforms Advances Understanding of Cellular and Molecular Mechanisms of Cell Injury.

Khalaila R et al.

Cells, 2025

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

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

Small molecule APOL1 inhibitors as a precision medicine approach for APOL1-mediated kidney disease.

Zimmerman B et al.

Nature Communications, 2025

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

Molecular Dynamic Simulation Reveals Structure Differences in APOL1 Variants and Implication in Pathogenesis of Chronic Kidney Disease.

Mayanja R et al.

Genes, 2022

APOL1 risk variants in kidney transplantation: a modulation of immune cell function.

Malone AF

The Journal of Clinical Investigation, 2021

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

Blazer A et al.

Lupus Science & Medicine, 2021

Association Between APOL1 Genotype and Kidney Diseases and Annual Kidney Function Change: A Systematic Review and Meta-Analysis of the Prospective Studies.

Jagannathan R et al.

International Journal of Nephrology and Renovascular Disease, 2021

Apolipoprotein L1 (APOL1) Coding Variants Are Associated With Creatinine Rise After Cardiac Surgery.

Privratsky JR et al.

Journal of Cardiothoracic and Vascular Anesthesia, 2020

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

APOL1 Kidney Risk Variants and Cardiovascular Disease: An Individual Participant Data Meta-Analysis.

Grams ME et al.

Journal of the American Society of Nephrology : Jasn, 2019

Children with sickle cell anemia and APOL1 genetic variants develop albuminuria early in life.

Zahr RS et al.

Haematologica, 2019

APOL1-Associated Kidney Disease in Brazil.

Riella C et al.

Kidney International Reports, 2019

APOL1 Risk Genotypes Are Associated With Early Kidney Damage in Children in Sub-Saharan Africa.

Ekulu PM et al.

Kidney International Reports, 2019

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

Lipid biology of the podocyte--new perspectives offer new opportunities.

Fornoni A et al.

Nature Reviews. Nephrology, 2014

APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy.

Kopp JB et al.

Journal of the American Society of Nephrology : Jasn, 2011

The genetics of common kidney disease: a pathway toward clinical relevance.

Drawz PE et al.

Nature Reviews. Nephrology, 2011

The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.

Rosset S et al.

Nature Reviews. Nephrology, 2011

APOL1 Risk Alleles, Cardiac Markers, and Risk of ESKD in African Americans: The Atherosclerosis Risk in Communities Study.

Surapaneni AL et al.

Kidney Medicine, 0

32775995 (PubMed )
Supplement: mmc1.pdf

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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