Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_005594
5031697

probable phospholipid-transporting ATPase IC [Homo sapiens]

Known Diseases associated with this Protein:
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INCLUDED
9
7
9
7
0
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:

MgtA - COG0474
E1-E2_ATPase - pfam00122


RefSeq Protein: NP_005594
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
E1-E2_ATPasepfam001228.8e-07146421

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12968116 Polymorphismp.ARG952GLNN/A
dbSNPrs34719006 Polymorphismp.ASP70ASNN/A
dbSNPrs3745079 Polymorphismp.HIS78GLNN/A
dbSNPrs34315917 Polymorphismp.ILE393VALN/A
dbSNPrs3745078 Polymorphismp.ILE577VALN/A
dbSNPrs34018300 Polymorphismp.LYS814ASNN/A
dbSNPrs33963153 Polymorphismp.SER580ASNN/A
OMIM602397.0011 Diseasep.ARG867CYSCHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
OMIM602397.0013 Diseasep.ARG602TERCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM602397.0008 Diseasep.ASP554ASNCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM602397.0010 Diseasep.ASP70ASNCHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
OMIM602397.0002 Diseasep.GLY892ARGCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM602397.0001 Diseasep.GLY308VALCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM602397.0006 Diseasep.ILE661THRCHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1||CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INCLUDED
OMIM602397.0003 Diseasep.LEU288SERCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM602397.0012 Diseasep.THR456METCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258