1 protein found in SwissVar (18 variants)
with gene/protein name P13645
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P13645 | K1C10_HUMAN | p.Ile101Ser p.Gly126Ser p.Met150Thr p.His487Tyr |
| |
| P13645 | K1C10_HUMAN | epidermolytic hyperkeratosis | p.Met150Arg p.Asn154His p.Arg156Cys p.Arg156Ser p.Arg156His p.Arg156Pro p.Tyr160Asp p.Tyr160Ser p.Tyr160Asn p.Leu161Ser p.Lys439Glu p.Leu442Gln |
|
| P13645 | K1C10_HUMAN | ichthyosis annular epidermolytic | p.Arg422Glu p.Ile446Thr |
|
| P13645 | K1C10_HUMAN | erythroderma, ichthyosiform, congenital reticular |