KRT16 K354N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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KRT16 K354N

(KRT16 Lys354Asn)

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

  • A @ chr17:39766801: 0.1% (10/10752) in EVS
  • Frequency shown in summary reports: 0.1% (10/10752)



Other external references

  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
  • Score: 0.995 (probably damaging)
    Web search results (4 hits -- see all)
  • Type II- 98%
    ... <body><pre>Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... (dbSNP:rs2830585) 10464288 KRT16 P08779 K354N 352 VAR_017067 PKC (0. ...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous epithelia, but it ... (K354N) mutation in the central 2B domain of the KRT16 polypeptide. ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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