NRIP1 R448G - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

NRIP1 R448G

(NRIP1 Arg448Gly)


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

  • C @ chr21:16339172: 7.5% (802/10758) in EVS
  • C @ chr21:15261042: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (802/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr21:16339172

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr21:16339172

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr21:16339172

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr21:16339172

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr21:16339172

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr21:16339172

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr21:15261043

 

Other external references
 

    dbSNP
  • rs2229742
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (25 hits -- see all)
  • Journal of Experimental & Clinical Assisted Reproduction ...
    Targeting disruption experiments of nrip1 gene in mice have demonstrated that ... that Arg448Gly, a common polymorphism located within NRIP1 gene, is ...
    archive.biomedcentral.com/1743-1050/2/11
  • NRIP1 Gene - GeneCards | NRIP1 Protein | NRIP1 Antibody
    EntrezGene summary for NRIP1: Nuclear receptor interacting protein 1 (NRIP1) is a nuclear ... NRIP1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NRIP1
  • Preliminares de análisis genético molecular de la interacción ...
    Orientación de los trastornos de nrip1 experimentos en ratones han demostrado ... Arg448Gly, un polimorfismo de los genes situados dentro de NRIP1, ...
    viaclinica.com/article.php?pmc_id=1242355
  • SNP list
    rs2229742 %> NRIP1. PMID:16741161. rs2230674 %> P191A. PMID:16741161 ... Center for Bioinformatics and Computational Biology. East China Normal University (ECNU) ...
    www.megabionet.org/bio/hlung/lung_cancer/SNP_list.jsp
  • Nuclear receptor-interacting protein 1 - Homo sapiens (Human)
    NRIP1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... dbSNP rs2229742. Ref.1 Ref.14. VAR_023708. Natural variant. 567. 1. N S: dbSNP rs9975169. ...
    www.uniprot.org/uniprot/P48552
  • Functional genetic polymorphisms and female reproductive ...
    Human Reproduction Update Advance Access originally published online ... The p.R448G polymorphism in the gene encoding this protein (NRIP1) has been linked to ...
    humupd.oxfordjournals.org/cgi/content/full/15/1/97
  • AceView: Gene:NRIP1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=NRIP1
  • NURSA | The nuclear receptor transcriptional coregulator RIP140
    ... NLS: nuclear localization signals; NR: nuclear receptor; NRIP1: nuclear receptor ... gene is also known as NRIP1 (Nuclear Receptor-Interacting Protein 1) which ...
    www.nursa.org/article.cfm?doi=10.1621/nrs.04024
  • NR Coregulators and Human Diseases (614 Pages)
    to developmental and environmental signals is by altering their pat ... NRIP1 [488] 9. infertility. G75G polymorphism, [489] association with. ESR1 g.938T>C ...
    www.worldscibooks.com/etextbook/6367/6367_chap01.pdf
  • Supplementary table
    NRIP1. rs2229741. 0,41. 0,19. 0,74. NRIP1. rs2229742. 0,12. NA. 0,46. NSDHLx ... NA = SNP did not fulfil the assumption of similar change in BMI or waist over ...
    www.nature.com/ijo/journal/v33/n10/extref/ijo2009152x3.doc

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in