Results for the protein: Q9BQB6

Results for the Protein: Q9BQB6

62511226

79001

VKORC1

NCBI, UniProt

VKOR1_HUMAN RecName: Full=Vitamin K epoxide reductase complex subunit 1; AltName: Full=Vitamin K1 2,3-epoxide reductase subunit 1

Known Diseases associated with this Protein:
  COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS 2 (VKCFD2)
  COUMARIN RESISTANCE (CMRES)
  VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
  WARFARIN RESISTANCE

25

0

6

0

19

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Default View: COG4243 - COG4243 VKc - smart00756 VKOR - pfam07884	Swiss-Prot Protein: Q9BQB6 Identical to: NP_076869 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
VKc	smart00756	1.8e-58	5	153
VKOR	pfam07884	2.6e-55	8	153

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065785	Disease	p.ALA26THR	Coumarin resistance (CMRES)
Swiss-Prot	VAR_021823	Disease	p.ARG58GLY	Coumarin resistance (CMRES)
Swiss-Prot	VAR_021824	Disease	p.ARG98TRP	Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2)
Swiss-Prot	VAR_065795	Disease	p.ASN77SER	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065796	Disease	p.ASN77TYR	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065786	Disease	p.ASP36GLY	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065787	Disease	p.ASP36TYR	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065794	Disease	p.GLY71ALA	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065797	Disease	p.ILE123ASN	Coumarin resistance (CMRES)
Swiss-Prot	VAR_021825	Disease	p.LEU128ARG	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065789	Disease	p.SER56PHE	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065788	Disease	p.SER52TRP	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065790	Disease	p.TRP59CYS	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065791	Disease	p.TRP59LEU	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065798	Disease	p.TYR139HIS	Coumarin resistance (CMRES)
Swiss-Prot	VAR_021822	Disease	p.VAL45ALA	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065792	Disease	p.VAL66GLY	Coumarin resistance (CMRES)
Swiss-Prot	VAR_021821	Disease	p.VAL29LEU	Coumarin resistance (CMRES)
Swiss-Prot	VAR_065793	Disease	p.VAL66MET	Coumarin resistance (CMRES)
OMIM	608547.0004	Disease	p.ARG58GLY	WARFARIN RESISTANCE
OMIM	608547.0001	Disease	p.ARG98TRP	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
OMIM	608547.0007	Disease	p.ASP36TYR	WARFARIN RESISTANCE
OMIM	608547.0005	Disease	p.LEU128ARG	WARFARIN RESISTANCE
OMIM	608547.0003	Disease	p.VAL45ALA	WARFARIN RESISTANCE
OMIM	608547.0002	Disease	p.VAL29LEU	WARFARIN RESISTANCE

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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