1 protein found in SwissVar (22 variants)
with gene/protein name P04264
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) |
|---|---|---|---|---|
| P04264 | K2C1_HUMAN | p.Ile312Val p.Ile330Thr p.Tyr358Asn p.Ala454Ser p.Gly537Cys p.Lys633Arg |
| |
| P04264 | K2C1_HUMAN | epidermolytic hyperkeratosis | p.Val155Gly p.Val155Asp p.Leu161Pro p.Ser186Pro p.Asn188Thr p.Asn188Lys p.Asn188Ser p.Ser193Pro p.Leu214Pro p.Asp340Val p.Ile479Thr p.Tyr482Cys p.Leu486Pro p.Glu490Gln |
|
| P04264 | K2C1_HUMAN | ichthyosis hystrix, curth-macklin type | ||
| P04264 | K2C1_HUMAN | keratoderma, palmoplantar, non-epidermolytic | p.Lys74Ile |
|
| P04264 | K2C1_HUMAN | ichthyosis annular epidermolytic | p.Ile479Phe p.Ile479Thr |
|
| P04264 | K2C1_HUMAN | keratoderma, palmoplantar, striate 3 |