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!



(GPX6 Tyr72Asn)

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

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






Other external references

  • rs35062161
    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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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