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Results for the Protein: P43657
34223726

LPAR6_HUMAN RecName: Full=Lysophosphatidic acid receptor 6; Short=LPA receptor 6; Short=LPA-6; AltName: Full=Oleoyl-L-alpha-lysophosphatidic acid receptor; AltName: Full=P2Y purinoceptor 5; Short=P2Y5; AltName: Full=Purinergic receptor 5; AltName: Full=RB intron encoded G-protein coupled receptor

Known Diseases associated with this Protein:
  HYPOTRICHOSIS 8
  HYPOTRICHOSIS 8, INCLUDED
  WOOLLY HAIR AUTOSOMAL RECESSIVE 1 WITH OR WITHOUT HYPOTRICHOSIS (ARWH1)
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1
  WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
8
3
5
1
5
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Default View:

7tm_1 - pfam00001




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000013.3e-7640291

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_044326Diseasep.ASP63VALWoolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
dbSNPrs4151553 Polymorphismp.CYS137TRPN/A
Swiss-ProtVAR_044328Diseasep.GLU189LYSWoolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
Swiss-ProtVAR_044327Diseasep.ILE188PHEWoolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1)
Swiss-ProtVAR_022636Polymorphismp.ILE33VALN/A
Swiss-ProtVAR_049430Polymorphismp.TRP307CYSN/A
OMIM609239.0001 Diseasep.GLN155TERHYPOTRICHOSIS 8
OMIM609239.0006 Diseasep.GLU189LYSWOOLLY HAIR, AUTOSOMAL RECESSIVE 1||HYPOTRICHOSIS 8, INCLUDED
OMIM609239.0005 Diseasep.GLY146ARGHYPOTRICHOSIS 8
OMIM609239.0004 Diseasep.ILE188PHEWOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
OMIM609239.0007 Diseasep.PRO196LEUHYPOTRICHOSIS 8



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