Varaico: Literature-Extracted Genetic Variants

Gene:APOL1
Variant:p.I384M
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APOL1

NM_003661.4:p.I384M

Associated Papers

KidneyGenAfrica multi-cohort Genome-wide association study and polygenic prediction of kidney function in 110,000 Africans.

Kamiza AB et al.

Nature Communications, 2026

Genetic screening in kidney transplant candidates.

Le Moal P et al.

Clinical Kidney Journal, 2026

A novel APOL1 membrane-addressing domain mutation (p.T272I) in Chinese twins with FSGS: implications for podocyte injury and ion channel disruption.

Peng T et al.

Renal Failure, 2025

Quantifying APOL1, Human Leukocyte Antigen, and Other Genetic Contributions to Unexplained Kidney Failure.

Sadeghi-Alavijeh O et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025

APOL1 Monoallelic and Biallelic genotypes and CKD, Proteinuria and FSGS in African Americans from the Vanderbilt Biobank (BioVU).

Clapp SW et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

APOL1 risk variants induce metabolic reprogramming of podocytes in patient-derived kidney organoids.

Song H et al.

Stem Cell Reports, 2025

De novo rates of a Trypanosoma-resistant mutation in two human populations.

Melamed D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.

Chang AR et al.

Seminars in Nephrology, 2025

APOL1 Mediated Kidney Disease: A Review and Look Toward the Future.

Srinivasan V et al.

Kidney Medicine, 2025

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

Approach to kidney transplant candidates with hereditary transthyretin (TTR) amyloidosis and TTR variants: Case reports and mini-review.

Caliskan Y et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2025

APOL1-associated kidney disease: modulators of the genotype-phenotype relationship.

Pollak MR et al.

Current Opinion in Nephrology and Hypertension, 2025

Genetic Testing in Biopsy-Confirmed Kidney Disease.

Schmidt IM et al.

Kidney Medicine, 2025

40321977 (PubMed )
Supplement: mmc1.pdf

Platform-dependent effects of genetic variants on plasma APOL1.

Wang QS et al.

Biorxiv : the Preprint Server for Biology, 2025

CR1 variants contribute to FSGS susceptibility across multiple populations.

Skitchenko R et al.

Iscience, 2025

APOL1 genotype and patient outcomes in US and South African transplant recipients with HIV who received kidneys from donors with HIV.

Freercks R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C et al.

Genes, 2025

40282368 (PubMed )
Supplement: genes-16-00408-s001.zip › genes-3515821-supplementary.pdf

Association between Apolipoprotein L1 genetic variants and risk of preeclampsia and preterm birth among U.S. Black women.

Sheehy S et al.

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2025

Clinical implications of apolipoprotein L1 testing in patients with focal segmental glomerulosclerosis: a review of diagnostic and prognostic implications.

Waheed A et al.

Annals of Medicine and Surgery (2012), 2025

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

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C et al.

Kidney International Reports, 2025

39990878 (PubMed )
Supplement: mmc1.pdf

APOL1 Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans.

Gbadegesin RA et al.

The New England Journal of Medicine, 2025

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

Zimmerman B et al.

Nature Communications, 2025

G1 and G2 variants of apolipoprotein L1 among Central African population in Trypanosoma brucei gambiense endemic rural area.

Mupepe DM et al.

Journal of Infection in Developing Countries, 2024

Apolipoprotein-L1 (APOL1): From Sleeping Sickness to Kidney Disease.

Pays E

Cells, 2024

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

Zhang DY et al.

Jci Insight, 2024

CRISPR-enabled point-of-care genotyping for APOL1 genetic risk assessment.

Greensmith R et al.

Embo Molecular Medicine, 2024

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States.

da Silva Francisco R et al.

Kidney International Reports, 2024

The dominant findings of a recessive man: from Mendel's kid pea to kidney.

Tory K

Pediatric Nephrology (berlin, Germany), 2024

Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.

Ruiz MA et al.

British Journal of Haematology, 2024

Collapsing Glomerulopathy.

Koirala A et al.

Advances in Kidney Disease and Health, 2024

Diagnostic Yield of APOL1 p.N264K Variant Screening in Daily Practice.

Narjoz C et al.

Kidney International Reports, 2024

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations.

Breeze CE et al.

Bmc Genomics, 2024

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

Schmidt RJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Association of Normal and Mutated APOL1 G2 Rs60910145 alleles with SCD, Body Mass Index, and Renal Function Biomarkers and Indices.

Ismail AM et al.

Current Research in Translational Medicine, 2024

Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders.

Adamson WE et al.

Ebiomedicine, 2024

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.

Venner E et al.

Communications Biology, 2024

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

Gupta N et al.

Scientific Reports, 2024

APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.

Datta S et al.

The Journal of Clinical Investigation, 2024

Association of Recipient APOL1 Kidney Risk Alleles With Kidney Transplant Outcomes.

Roy N et al.

Transplantation, 2023

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

Zhu JY et al.

Disease Models & Mechanisms, 2023

CR1 variants contribute to FSGS susceptibility across multiple populations.

Skitchenko R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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