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Results for the Protein: Q14693
23831266

LPIN1_HUMAN RecName: Full=Phosphatidate phosphatase LPIN1; AltName: Full=Lipin-1

Known Diseases associated with this Protein:
  MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
3
3
3
1
2
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Default View:

LNS2 - smart00775
LNS2 - pfam08235


Swiss-Prot Protein: Q14693
Identical to: NP_663731
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LNS2smart007757.2e-98674830

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035874Polymorphismp.GLY56GLUN/A
dbSNPrs4669781 Polymorphismp.PRO610SERN/A
Swiss-ProtVAR_054878Polymorphismp.SER637THRN/A
OMIM605518.0002 Diseasep.ARG303TERMYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
OMIM605518.0003 Diseasep.ARG716TERMYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
OMIM605518.0001 Diseasep.GLU166TERMYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE



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