SCARB1 V135I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SCARB1 V135I

(SCARB1 Val135Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr12:125299542: 1.0% (111/10758) in EVS
  • T @ chr12:123865494: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (111/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr12:125299542

 

Other external references
 

    dbSNP
  • rs5891
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.014 (benign)
    Web search results (16 hits -- see all)
  • SCARB1 Gene - GeneCards | SCRB1 Protein | SCRB1 Antibody
    Binding between SCARB1 and E2 was found to be independent of the ... SCARB1 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SCARB1
  • SCARB1 genotype affects HDL cholesterol levels in young Amish ...
    High-density lipoprotein cholesterol levels in women younger than 50 years differ according to which variant they carry of the gene scavenger receptor class B type I, ...
    www.lipidsonline.org/news/article.cfm?aid=4864
  • Dislipidemia 2009: Is there something new?
    Dyslipidemia 2009: Is there something new? Scavenger Receptor Class B Type I (SR-BI) in Humans ... Atherosclerosis (MESA) • Forty-three SCARB1 SNPS were genotyped • Significant ...
    slideshare.net/rdaragnez/dislipidemia-2009-is-there-somet...
  • Scavenger receptor class B member 1 - Homo sapiens (Human)
    SCARB1. Synonyms: CD36L1, CLA1. Organism. Homo sapiens (Human) [Complete ... Binding between SCARB1 and E2 was found to be independent of the genotype of the ...
    www.uniprot.org/uniprot/Q8WTV0
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... METHODS: Eight SCARB1 SNPs, identified from public databases, were genotyped in 919 ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Shuldiner
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Variants in scavenger receptor class B type I gene are ...
    OBJECTIVE: Variants within the scavenger receptor class B type I (SCARB1) receptor gene have been previously associated with lipid levels, especially in women, with ...
    www.medscape.com/medline/abstract/17476110
  • Variants in scavenger receptor class B type I gene are ...
    METHODS: Eight SCARB1 SNPs, identified from public databases, were genotyped in ... CONCLUSIONS:SCARB1 SNPs influence HDL-C levels in women, particularly in those ...
    www.biowizard.com/pmabstract.php?pmid=17476110
  • Variants in Scavenger Receptor Class B Type I Gene Are ...
    Methods: Eight SCARB1 SNPs, identified from public databases, were genotyped in ... Conclusions:SCARB1 SNPs influence HDL-C levels in women, particularly in those ...
    content.karger.com/ProdukteDB/produkte.asp?...
  • Scavenger receptor class B type I polymorphisms and ...
    BioInfoBank Library :: Scavenger receptor class B type I polymorphisms and peripheral arterial disease. SCAVENGER RECEPTOR CLASS B TYPE I PROTEIN AS AN INDEPENDENT ...
    lib.bioinfo.pl/pmid:17618962

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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