Results for the protein: P04259

Results for the Protein: P04259

238054404

3854

KRT6B

NCBI, UniProt

K2C6B_HUMAN RecName: Full=Keratin, type II cytoskeletal 6B; AltName: Full=Cytokeratin-6B; Short=CK-6B; AltName: Full=Keratin-6B; Short=K6B; AltName: Full=Type-II keratin Kb10

Known Diseases associated with this Protein:
PACHYONYCHIA CONGENITA 2 (PC2)
PACHYONYCHIA CONGENITA, TYPE 2

2

7

1

7

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Filament - pfam00038	Swiss-Prot Protein: P04259 Identical to: NP_005546 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 ↕
dbSNP	rs428894	Polymorphism	p.ASN21SER	N/A
dbSNP	rs652423	Polymorphism	p.ASN227SER	N/A
Swiss-Prot	VAR_023062	Disease	p.GLU472LYS	Pachyonychia congenita 2 (PC2)
dbSNP	rs144860693	Polymorphism	p.GLY97ARG	N/A
dbSNP	rs140878617	Polymorphism	p.GLY111ASP	N/A
dbSNP	rs404970	Polymorphism	p.ILE36VAL	N/A
dbSNP	rs437014	Polymorphism	p.ILE365VAL	N/A
dbSNP	rs61746354	Polymorphism	p.TYR497CYS	N/A
OMIM	148042.0001	Disease	p.GLU472LYS	PACHYONYCHIA CONGENITA, TYPE 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258