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Results for the Protein: P34913
67476665

HYES_HUMAN RecName: Full=Bifunctional epoxide hydrolase 2; Includes: RecName: Full=Cytosolic epoxide hydrolase 2; Short=CEH; AltName: Full=Epoxide hydratase; AltName: Full=Soluble epoxide hydrolase; Short=SEH; Includes: RecName: Full=Lipid-phosphate phosphatase

Known Diseases associated with this Protein:
  HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF
1
9
1
3
6
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Default View:

COG1011 - COG1011
Hydrolase - pfam00702
HAD_like - cd01427
PldB - COG2267
MhpC - COG0596
Abhydrolase_1 - pfam00561


Swiss-Prot Protein: P34913
Identical to: NP_001970
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1011COG10114.5e-141223
HAD_likecd014278.7e-125203
MhpCCOG05961.8e-42239545
Hydrolasepfam007028.1e-153197
PldBCOG22670.0002229549
Abhydrolase_1pfam005612.6e-64286540

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17057255 Polymorphismp.ARG103CYSN/A
dbSNPrs751141 Polymorphismp.ARG287GLNN/A
Swiss-ProtVAR_055393Polymorphismp.ARG52GLNN/A
Swiss-ProtVAR_055394Polymorphismp.CYS154TYRN/A
Swiss-ProtVAR_055397Polymorphismp.GLU470GLYN/A
Swiss-ProtVAR_055392Polymorphismp.GLY21ALAN/A
dbSNPrs41507953 Polymorphismp.LYS55ARGN/A
Swiss-ProtVAR_055396Polymorphismp.MET369VALN/A
Swiss-ProtVAR_055395Polymorphismp.PRO225LEUN/A
OMIM132811.0001 Diseasep.ARG287GLNHYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF



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