KRT16 R125C - 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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KRT16 R125C

(KRT16 Arg125Cys)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
    Web search results (5 hits -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs3865205) 9920877 KRT16 P08779 R127C 130 VAR_009184 CK2 ...
  • Type III 97%
    ... family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site TPSD1 ... 874) CK2 (0.789) 11133365 KRT16 P08779 R127C 130 VAR_009184 STE20 (0. ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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