GRK4 A116T - 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:

GRK4 A116T

(GRK4 Ala116Thr)


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 @ 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)

Publications
 

Genomes
 

 

 

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

 

Other external references
 

    dbSNP
  • rs34857805
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GRK4
  • 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. ...
    www.uniprot.org/uniprot/P32298
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P32298
  • 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 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in