Varaico: Literature-Extracted Genetic Variants

Gene:SELE
Variant:p.H468Y
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SELE

NM_000450.2:p.H468Y

Associated Papers

Potential new cancer biomarkers revealed by quantum chemistry associated with bioinformatics in the study of selectin polymorphisms.

Rabi LT et al.

Heliyon, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.

Marcos González S et al.

Biomedicines, 2023

37371859 (PubMed )
Supplement: biomedicines-11-01764-s001.zip › biomedicines-2420377-supplementary.pdf

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Influence of haplotypes, gene expression and soluble levels of L-selectin on the risk of acute coronary syndrome.

Sandoval-Pinto E et al.

Gene, 2017

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India.

Kanchan K et al.

European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology, 2015

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Evaluation of variants in the selectin genes in age-related macular degeneration.

Mullins RF et al.

Bmc Medical Genetics, 2011

Association of polymorphisms of interleukin-8, CXCR1, CXCR2, and selectin with allograft outcomes in kidney transplantation.

Ro H et al.

Transplantation, 2011

Association of the 98T ELAM-1 polymorphism with increased bleeding after cardiac surgery.

Welsby IJ et al.

Journal of Cardiothoracic and Vascular Anesthesia, 2010

Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia.

Mailaparambil B et al.

Disease Markers, 2010

Association of interleukin-13/-4 and toll-like receptor 10 with preterm births.

Heinzmann A et al.

Neonatology, 2009

The common variants of E-selectin gene in Graves' disease.

Chen H et al.

Genes and Immunity, 2008

Racial and genetic factors in IgA nephropathy.

Hsu SI

Seminars in Nephrology, 2008

Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean population.

Cha SH et al.

Journal of Hypertension, 2007

Functional impact of IgA nephropathy-associated selectin gene haplotype on leukocyte-endothelial interaction.

Takei T et al.

Immunogenetics, 2006

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

Selectin gene polymorphisms in IgA nephropathy.

Nitta K et al.

Internal Medicine (tokyo, Japan), 2006

Impact of selectin gene polymorphisms on rapid progression to end-stage renal disease in patients with IgA nephropathy.

Watanabe Y et al.

Internal Medicine (tokyo, Japan), 2006

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