GPX6 Y72N - 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:

GPX6 Y72N

(GPX6 Tyr72Asn)


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

  • T @ chr6:28478555: 5.4% (549/10090) in EVS
  • Frequency shown in summary reports: 5.4% (549/10090)

Publications
 

Genomes
 

 

 

 

Other external references
 

    dbSNP
  • rs35062161
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • Glutathione peroxidase 6 precursor - Homo sapiens (Human)
    GPX6. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... GPX6. MIM. 607913. gene. PharmGKB. PA28954. GenAtlas. Search... Phylogenomic databases ...
    www.uniprot.org/uniprot/P59796
  • Type I- 95%
    ... Reference(s) for phosphorylation site NKX2-5 P52952 S45P 45 VAR_038217 gCK1 (0. ... (0.589) MDB and hepatocellular carcinoma, enhances transactivation of target ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_95.txt
  • UniProt: P59796
    AC P59796; Q4PJ17; DT 04-AUG-2003, integrated into UniProtKB/Swiss-Prot. ... DR H-InvDB; HIX0032860; -. DR H-InvDB; HIX0176419; -. DR HGNC; HGNC:4558; GPX6. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P59796

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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