Varaico: Literature-Extracted Genetic Variants

Gene:CD36
Variant:p.P90S
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CD36

NM_001001548.3:p.P90S

Associated Papers

Late-Onset Bilateral Malignant Ciliary Body Medulloepithelioma in an Adult.

Kaimi Y et al.

Pathology International, 2026

Development and clinical application of a low-cost high-resolution melting curve assay for CD36 gene variant screening in a chinese population.

Liu Z et al.

Molecular Biology Reports, 2025

Human CD36: Gene Regulation, Protein Function, and Its Role in Atherosclerosis Pathogenesis.

Rac M

Genes, 2025

Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.

Jee YH et al.

Nature Communications, 2025

Genome-wide association studies in a large Korean cohort identify novel quantitative trait loci for 36 traits and illuminate their genetic architectures.

Jee YH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.

Park YJ et al.

Lipids in Health and Disease, 2024

39198834 (PubMed )
Supplement: 12944_2024_2248_MOESM1_ESM.xlsx › Table_S3

The polymorphism analysis for CD36 among platelet donors.

Lyu Q et al.

Scientific Reports, 2024

High-Throughput CD36 Phenotyping on Human Platelets Based on Sandwich ELISA and Mutant Gene Analysis.

He H et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2024

Frequency and molecular basis of CD36 deficiency among platelet donors in Kunming, China.

Lyu Q et al.

Platelets, 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Waks AG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35101884 (PubMed )
Supplement: ccr-21-2572_supplementary_table_s6_supps6.xls › Sheet1

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Platelet CD36 deficiency is present in 2.6% of Arabian individuals and can cause NAIT and platelet refractoriness.

Flesch BK et al.

Transfusion, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

New molecular basis associated with CD36-negative phenotype in the sub-Saharan African population.

Le Toriellec E et al.

Transfusion, 2020

Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.

Pei J et al.

Plos Computational Biology, 2020

Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma.

Phuangtham R et al.

Transfusion, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Thromboelastography characterized CD36 null subjects as slow clot formation and indicative of hypocoagulability.

Lee BC et al.

Thrombosis Research, 2019

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects.

Masuda Y et al.

Thrombosis Research, 2015

Incidence and molecular basis of CD36 deficiency in Shanghai population.

Li R et al.

Transfusion, 2015

Free fatty acid uptake in humans with CD36 deficiency.

Hames KC et al.

Diabetes, 2014

Variants of CD36 gene and their association with CD36 protein expression in platelets.

Xu X et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

Takata A et al.

Biological Psychiatry, 2013

Common sequence variants in CD36 gene and the levels of triglyceride and high-density lipoprotein cholesterol among ethnic Chinese in Taiwan.

Chien KL et al.

Lipids in Health and Disease, 2012

Metabolic syndrome is linked to chromosome 7q21 and associated with genetic variants in CD36 and GNAT3 in Mexican Americans.

Farook VS et al.

Obesity (silver Spring, Md.), 2012

22456541 (PubMed )
Supplement: NIHMS365351-supplement-supplement_1.pdf

Comparative Studies of Vertebrate Platelet Glycoprotein 4 (CD36).

Holmes RS

Biomolecules, 2012

Variants in the CD36 gene locus determine whole-body adiposity, but have no independent effect on insulin sensitivity.

Heni M et al.

Obesity (silver Spring, Md.), 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

CD36 polymorphism and its relationship with body mass index and coronary artery disease in a Korean population.

Yun YM et al.

Clinical Chemistry and Laboratory Medicine, 2007

Takotsubo-shaped cardiomyopathy with type I CD36 deficiency.

Kushiro T et al.

Heart and Vessels, 2005

Increased risk of colorectal cancer due to interactions between meat consumption and the CD36 gene A52C polymorphism among Japanese.

Kuriki K et al.

Nutrition and Cancer, 2005

A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.

Ma X et al.

Human Molecular Genetics, 2004

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry.

Nakai K et al.

Human Mutation, 2002

Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese.

Kajihara S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001

Variability of the CD36 gene in West Africa.

Gelhaus A et al.

Human Mutation, 2001

Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations.

Tanaka T et al.

Journal of Lipid Research, 2001

Phenotype-genotype correlation in CD36 deficiency types I and II.

Yanai H et al.

Thrombosis and Haemostasis, 2000

Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.

Yanai H et al.

American Journal of Medical Genetics, 2000

Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats.

Aitman TJ et al.

Nature Genetics, 1999

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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."