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Results for the Protein: Q92847
2494998

GHSR_HUMAN RecName: Full=Growth hormone secretagogue receptor type 1; Short=GHS-R; AltName: Full=GH-releasing peptide receptor; Short=GHRP; AltName: Full=Ghrelin receptor

Known Diseases associated with this Protein:
  SHORT STATURE, IDIOPATHIC, AUTOSOMAL
  SHORT STATURE, IDIOPATHIC, AUTOSOMAL (ISSA)
4
1
3
0
2
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Default View:

7TM_GPCR_Srw - pfam10324
7tm_1 - pfam00001


Swiss-Prot Protein: Q92847
Identical to: NP_940799
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000013.4e-5866323
7TM_GPCR_Srwpfam103240.0001451341

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032705Diseasep.ALA204GLUShort stature, idiopathic, autosomal (ISSA)
Swiss-ProtVAR_049389Polymorphismp.THR5ILEN/A
OMIM601898.0001 Diseasep.ALA204GLUSHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM601898.0003 Diseasep.ARG237TRPSHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM601898.0002 Diseasep.TRP2TERSHORT STATURE, IDIOPATHIC, AUTOSOMAL



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