Results for the protein: P13645

Results for the Protein: P13645

269849769

3858

KRT10

NCBI, UniProt

K1C10_HUMAN RecName: Full=Keratin, type I cytoskeletal 10; AltName: Full=Cytokeratin-10; Short=CK-10; AltName: Full=Keratin-10; Short=K10

Known Diseases associated with this Protein:
EPIDERMOLYTIC HYPERKERATOSIS (EHK)
ICHTHYOSIS ANNULAR EPIDERMOLYTIC (AEI)

14

4

0

0

18

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Default View: Filament - pfam00038	Swiss-Prot Protein: P13645 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003828	Disease	p.ARG156CYS	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_033145	Disease	p.ARG422GLU	Ichthyosis annular epidermolytic (AEI)
Swiss-Prot	VAR_003827	Disease	p.ARG156HIS	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003829	Disease	p.ARG156PRO	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003830	Disease	p.ARG156SER	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003826	Disease	p.ASN154HIS	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_010505	Polymorphism	p.GLY126SER	N/A
Swiss-Prot	VAR_060723	Polymorphism	p.HIS487TYR	N/A
Swiss-Prot	VAR_058202	Polymorphism	p.ILE101SER	N/A
Swiss-Prot	VAR_010511	Disease	p.ILE446THR	Ichthyosis annular epidermolytic (AEI)
Swiss-Prot	VAR_003833	Disease	p.LEU442GLN	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003832	Disease	p.LEU161SER	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_010510	Disease	p.LYS439GLU	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_010506	Disease	p.MET150ARG	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_010507	Polymorphism	p.MET150THR	N/A
Swiss-Prot	VAR_010508	Disease	p.TYR160ASN	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_003831	Disease	p.TYR160ASP	Epidermolytic hyperkeratosis (EHK)
Swiss-Prot	VAR_010509	Disease	p.TYR160SER	Epidermolytic hyperkeratosis (EHK)

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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