GPR56 S281R - 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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GPR56 S281R

(GPR56 Ser281Arg)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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

  • G @ chr16:57689385: 60.9% (6555/10758) in EVS
  • G @ chr16:56246885: 68.8% (88/128) in GET-Evidence
  • Frequency shown in summary reports: 60.9% (6555/10758)



Added in this revision:







Other external references

    Web search results (2 hits -- see all)
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK2 (0.813) neuroblastoma 8047138 CAV3 P56539 S61R 61 VAR_026696 PKC ...
  • Type I- 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 411 VAR_017320 IKK (0.741) HEMB, Varel 1346975 GPR56 Q9Y653 Y88C 88 VAR_026243 ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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