DBI M71V - GET-Evidence

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

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Curation:
Currentness:

DBI M71V

(DBI Met71Val)


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

  • G @ chr2:120129841: 2.5% (264/10758) in EVS
  • G @ chr2:119846310: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (264/10758)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr2:120129841

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr2:120129841

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:119846311

 

Other external references
 

    dbSNP
  • rs8192506
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.297 (possibly damaging)
    Web search results (25 hits -- see all)
  • DBI Gene - GeneCards | ACBP Protein | ACBP Antibody
    DBI Gene in genomic location: bands according to Ensembl, locations according to ... Abnova (DBI) OriGene Purified Recombinant Human Protein: DBI. 1 Gene ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DBI
  • DBI [PharmGKB]
    rs8192506 at chr2:119846311 in C2orf76, DBI. Association between a non-synonymous coding ... DBI. PromoLign ID: ortho_989. HuGE ID: DBI. Comparative Toxicogenomics ...
    www.pharmgkb.org/do/serve?objId=PA27158&objCls=Gene
  • Supplementary Table xls.1
    Case frequencies. Control frequencies. 2. SNP ID1. Gene. Protein. AA2. AB2. BB2. AA2. AB2. BB2. 3 ... rs8192506. DBI. NP_065438. 2342. 215. 4. 2482. 208. 5. 250. rs2229080. DCC ...
    icr.ac.uk/research/research_sections/.../6018.xls
  • Acyl-CoA-binding protein - Homo sapiens (Human)
    M V: dbSNP rs8192506. VAR_048161. Natural variant. 86. 1. G R: dbSNP ... characterization of two diazepam binding inhibitor (DBI) transcripts in humans. ...
    www.uniprot.org/uniprot/ACBP_HUMAN
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... 6 receptor rs8192297 rs8192341 rs8192506*DBI NM_020548 NP_065438 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Evaluation of Phenotypic Changes of Acyl-CoA Binding Protein ...
    The exonic SNP rs8192506 was found to be associated. with anxiety disorders with panic ... that this protein is identical to ACBP/DBI isolated from rat brain. ...
    www.uku.fi/vaitokset/2008/isbn978-951-27-1124-6.pdf
  • [M4] Sidney on top of the World
    [M4] Sidney on top of the World. Sarah Leipsic sarah@tam.net. Tue, 8 May 2001 16:10:35 ... Next message: [M4] Having fun at the Bay to Breakers party. Messages ...
    www.emphatic.com/pipermail/m4/2001-May/000071.html
  • DBI Gene - GeneCards | ACBP Protein | ACBP Antibody
    DBI Gene in genomic location: bands according to Ensembl, locations according to ... (DBI) Novus Biologicals Antibody for DBI. Assays for DBI: Browse ...
    genecards.ims.u-tokyo.ac.jp/cgi-bin/carddisp.pl?gene=DBI
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: DBI ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=DBI&geneid=1622
  • DBI Gene, DBI Transcript, DBI Protein, and DBI Antibody ...
    Homo sapiens. This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta ...
    refgene.com/gene/1622

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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