Results for the protein: Q14532

Results for the Protein: Q14532

311033432

3882

KRT32

NCBI, UniProt

K1H2_HUMAN RecName: Full=Keratin, type I cuticular Ha2; AltName: Full=Hair keratin, type I Ha2; AltName: Full=Keratin-32; Short=K32

			0 13 0 10 3

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Default View: Filament - pfam00038	Swiss-Prot Protein: Q14532 Identical to: NP_002269 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	rs9893787	Polymorphism	p.ARG428CYS	N/A
dbSNP	rs11078993	Polymorphism	p.ARG369GLN	N/A
dbSNP	rs72830046	Polymorphism	p.ARG280HIS	N/A
dbSNP	rs2604955	Polymorphism	p.ASN402SER	N/A
dbSNP	rs2604956	Polymorphism	p.ASP371GLU	N/A
dbSNP	rs3744786	Polymorphism	p.GLN72ARG	N/A
Swiss-Prot	VAR_060237	Polymorphism	p.GLU151ASP	N/A
Swiss-Prot	VAR_069391	Polymorphism	p.GLU89LYS	N/A
dbSNP	rs2071560	Polymorphism	p.ILE171THR	N/A
dbSNP	rs2604953	Polymorphism	p.PRO427THR	N/A
dbSNP	rs2071561	Polymorphism	p.SER222TYR	N/A
Swiss-Prot	VAR_056014	Polymorphism	p.THR339MET	N/A
dbSNP	rs2071563	Polymorphism	p.THR395MET	N/A

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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