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Results for the Protein: Q8N2K0
38604894

ABD12_HUMAN RecName: Full=Monoacylglycerol lipase ABHD12; AltName: Full=2-arachidonoylglycerol hydrolase; AltName: Full=Abhydrolase domain-containing protein 12

Known Diseases associated with this Protein:
  POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
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Default View:

COG1073 - COG1073
Aes - COG0657
PldB - COG2267
MhpC - COG0596
COG2945 - COG2945
Abhydrolase_3 - pfam07859


Swiss-Prot Protein: Q8N2K0
Identical to: NP_001035937
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1073COG10732.1e-0586389
AesCOG06575.1e-0592398
MhpCCOG05964.5e-06137392
PldBCOG22673.8e-06136396
COG2945COG29450.00099141397
Abhydrolase_3pfam078590.0008171366

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs746748 Polymorphismp.ALA349THRN/A
OMIM613599.0004 Diseasep.ARG352TERPOLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT



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