Results for the protein: P05783

Results for the Protein: P05783

125083

3875

KRT18

NCBI, UniProt

K1C18_HUMAN RecName: Full=Keratin, type I cytoskeletal 18; AltName: Full=Cell proliferation-inducing gene 46 protein; AltName: Full=Cytokeratin-18; Short=CK-18; AltName: Full=Keratin-18; Short=K18

Known Diseases associated with this Protein:
  CIRRHOSIS (CIRRH)
  CIRRHOSIS, CRYPTOGENIC
  CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED

5

7

1

6

5

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Default View: Filament - pfam00038	Swiss-Prot Protein: P05783 Identical to: NP_000215, NP_954657 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	rs74953757	Polymorphism	p.ALA32SER	N/A
dbSNP	rs78514003	Polymorphism	p.ALA26THR	N/A
Swiss-Prot	VAR_023056	Disease	p.ARG261GLN	Cirrhosis (CIRRH)
dbSNP	rs77825282	Polymorphism	p.ARG27TRP	N/A
dbSNP	rs11170343	Polymorphism	p.ASN193ASP	N/A
Swiss-Prot	VAR_023057	Disease	p.GLY340ARG	Cirrhosis (CIRRH)
Swiss-Prot	VAR_003852	Disease	p.HIS128LEU	Cirrhosis (CIRRH)
dbSNP	rs74379840	Polymorphism	p.PRO28GLN	N/A
Swiss-Prot	VAR_023055	Polymorphism	p.SER230THR	N/A
Swiss-Prot	VAR_023054	Disease	p.THR103ALA	Cirrhosis (CIRRH)
dbSNP	rs76301931	Polymorphism	p.THR4ILE	N/A
OMIM	148070.0001	Disease	p.HIS127LEU	CIRRHOSIS, CRYPTOGENIC\|\|CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED

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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