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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

GPR56 S281R

(GPR56 Ser281Arg)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • 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)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr16:57689385

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr16:57689385

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr16:57689385

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr16:57689385

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr16:57689385

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr16:57689385

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr16:57689385

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr16:56246886

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr16:56246886

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr16:56246886

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr16:56246886

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr16:56246886

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr16:56246886

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr16:56246886

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr16:56246886

 

Added in this revision:

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr16:56246886

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-27

 

snp-3

 

snp-6

 

Other external references
 

    dbSNP
  • rs1801257
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in