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Results for the Protein: P38435
84028279

VKGC_HUMAN RecName: Full=Vitamin K-dependent gamma-carboxylase; AltName: Full=Gamma-glutamyl carboxylase; AltName: Full=Peptidyl-glutamate 4-carboxylase; AltName: Full=Vitamin K gamma glutamyl carboxylase

Known Diseases associated with this Protein:
  COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS 1 (VKCFD1)
  PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (PXEL-MCFD)
  PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
  VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
20
1
12
1
8
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HTTM - smart00752
VKG_Carbox - pfam05090


Swiss-Prot Protein: P38435
Identical to: NP_000812
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HTTMsmart007521.8e-13056315

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032980Diseasep.ARG476CYSPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
dbSNPrs699664 Polymorphismp.ARG325GLNN/A
Swiss-ProtVAR_032981Diseasep.ARG476HISPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
Swiss-ProtVAR_021826Diseasep.ARG485PROCombined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)
Swiss-ProtVAR_032983Diseasep.GLY558ARGPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
Swiss-ProtVAR_005781Diseasep.LEU394ARGCombined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)
Swiss-ProtVAR_032979Diseasep.PHE299SERPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
Swiss-ProtVAR_032982Diseasep.TRP493SERPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
Swiss-ProtVAR_015218Diseasep.TRP501SERCombined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)
OMIM137167.0010 Diseasep.ARG476CYSPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0011 Diseasep.ARG476HISPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0003 Diseasep.ARG485PROVITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
OMIM137167.0008 Diseasep.GLN374TERPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0006 Diseasep.GLY558ARGPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0009 Diseasep.GLY537TYRPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0001 Diseasep.LEU394ARGVITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
OMIM137167.0005 Diseasep.PHE299SERPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0013 Diseasep.SER300PHEPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0007 Diseasep.TRP493SERPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
OMIM137167.0002 Diseasep.TRP501SERVITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
OMIM137167.0012 Diseasep.VAL255METPXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY



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