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Results for the Protein: P23141
119576

EST1_HUMAN RecName: Full=Liver carboxylesterase 1; AltName: Full=Acyl-coenzyme A:cholesterol acyltransferase; Short=ACAT; AltName: Full=Brain carboxylesterase hBr1; AltName: Full=Carboxylesterase 1; Short=CE-1; Short=hCE-1; AltName: Full=Cocaine carboxylesterase; AltName: Full=Egasyn; AltName: Full=HMSE; AltName: Full=Methylumbelliferyl-acetate deacetylase 1; AltName: Full=Monocyte/macrophage serine esterase; AltName: Full=Retinyl ester hydrolase; Short=REH; AltName: Full=Serine esterase 1; AltName: Full=Triacylglycerol hydrolase; Short=TGH; Flags: Precursor

Known Diseases associated with this Protein:
  CARBOXYLESTERASE 1 DEFICIENCY
1
9
1
7
2
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Default View:

PnbA - COG2272
COesterase - pfam00135
Esterase_lipase - cd00312
Aes - COG0657
Abhydrolase_3 - pfam07859


Swiss-Prot Protein: P23141
Identical to: NP_001020365
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Esterase_lipasecd003123.7e-23425537
AesCOG06573.4e-0666374
PnbACOG22721.3e-1054552
COesterasepfam001351.8e-2048547
Abhydrolase_3pfam078590.00099136359

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs115629050 Polymorphismp.ALA269SERN/A
Swiss-ProtVAR_014594Polymorphismp.ARG199HISN/A
dbSNPrs60054861 Polymorphismp.ARG186PRON/A
dbSNPrs2307227 Polymorphismp.ASP203GLUN/A
Swiss-ProtVAR_046954Polymorphismp.GLY143GLUN/A
dbSNPrs12149366 Polymorphismp.SER12ALAN/A
dbSNPrs2307240 Polymorphismp.SER75ASNN/A
dbSNPrs62028647 Polymorphismp.SER82LEUN/A
dbSNPrs200368245 Polymorphismp.VAL496METN/A
OMIM114835.0001 Diseasep.GLY142GLUCARBOXYLESTERASE 1 DEFICIENCY



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