C2CD3 P773R - 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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Curation:
Currentness:

C2CD3 P773R

(C2CD3 Pro773Arg)


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

  • C @ chr11:73814438: 1.0% (106/10758) in EVS
  • C @ chr11:73492085: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (106/10758)

Publications
 

Genomes
 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr11:73492086

 

Other external references
 

    dbSNP
  • rs34050666
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.777 (possibly damaging)
    Web search results (6 hits -- see all)
  • C2CD3 Gene - GeneCards | C2CD3 Protein | C2CD3 Antibody
    C2CD3 Gene in genomic location: bands according to Ensembl, locations ... for C2CD3 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=C2CD3
  • C2 domain-containing protein 3 - Homo sapiens (Human)
    C2CD3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P R: dbSNP rs34050666. VAR_037181. Natural variant. 997. 1. R Q: dbSNP rs11235995. Ref.4 ...
    www.uniprot.org/uniprot/Q4AC94
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • Type II- 95%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 AGC (0.891) PKA (0.932) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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