NEK11 E451K - 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.

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Curation:
Currentness:

NEK11 E451K

(NEK11 Glu451Lys)


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

  • A @ chr3:130889683: 0.4% (39/10758) in EVS
  • A @ chr3:132372372: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (39/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr3:130889683

 

Other external references
 

    dbSNP
  • rs35409692
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • NEK11 Gene - GeneCards | NEK11 Protein | NEK11 Antibody
    NEK11 Gene in genomic location: bands according to Ensembl, locations according ... Proteins from Abnova (NEK11) OriGene Purified Recombinant Human Protein: NEK11 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NEK11
  • Serine/threonine-protein kinase Nek11 - Homo sapiens (Human)
    Serine/threonine-protein kinase Nek11. EC=2.7.11.1. Alternative name(s) ... present in the nucleolus, and does not appear to phosphorylate NEK11. ...
    www.uniprot.org/uniprot/Q8NG66
  • UniProt: Q8NG66
    ... DE Short=NimA-related protein kinase 11; GN Name=NEK11; OS Homo sapiens (Human) ... not CC present in the nucleolus, and does not appear to phosphorylate CC NEK11. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q8NG66

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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