NEK11 E451K - GET-Evidence

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

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NEK11 E451K

(NEK11 Glu451Lys)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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


Other external references

  • rs35409692
  • 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 ...
  • Serine/threonine-protein kinase Nek11 - Homo sapiens (Human)
    Serine/threonine-protein kinase Nek11. EC= Alternative name(s) ... present in the nucleolus, and does not appear to phosphorylate NEK11. ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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