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Results for the Protein: NP_001020366
68508967

liver carboxylesterase 1 isoform a precursor [Homo sapiens]

Known Diseases associated with this Protein:
  CARBOXYLESTERASE 1 DEFICIENCY
1
7
1
7
0
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Default View:

Abhydrolase_3 - pfam07859




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs115629050 Polymorphismp.ALA270SERN/A
dbSNPrs60054861 Polymorphismp.ARG187PRON/A
dbSNPrs2307227 Polymorphismp.ASP204GLUN/A
dbSNPrs12149366 Polymorphismp.SER12ALAN/A
dbSNPrs2307240 Polymorphismp.SER76ASNN/A
dbSNPrs62028647 Polymorphismp.SER83LEUN/A
dbSNPrs200368245 Polymorphismp.VAL497METN/A
OMIM114835.0001 Diseasep.GLY143GLUCARBOXYLESTERASE 1 DEFICIENCY



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