GRK4 A116T - GET-Evidence

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

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GRK4 A116T

(GRK4 Ala116Thr)

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 @ chr4:3005964: 3.0% (319/10758) in EVS
  • A @ chr4:2975761: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (319/10758)





GS19669 - var-GS19669-1100-36-ASM
het A @ chr4:2975762


Other external references

  • rs34857805
  • Score: 0 (benign)
    Web search results (7 hits -- see all)
  • GRK4 Gene - GeneCards | GRK4 Protein | GRK4 Antibody
    GRK4-alpha can phosphorylate. rhodopsin and its activity is inhibited ... GRK4 Gene in genomic location: bands according to Ensembl, locations according ...
  • G protein-coupled receptor kinase 4 - Homo sapiens (Human)
    GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by ... DRD3 and GRK4 co-localize in lipid rafts of renal proximal tubule cells. ...
  • UniProt: P32298
    GRK4-alpha can phosphorylate rhodopsin CC and its activity is inhibited by ... DRD3 and GRK4 co-localize CC in lipid rafts of renal proximal tubule cells. ...
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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