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Results for the Protein: Q02643
3041685

GHRHR_HUMAN RecName: Full=Growth hormone-releasing hormone receptor; Short=GHRH receptor; AltName: Full=Growth hormone-releasing factor receptor; Short=GRF receptor; Short=GRFR; Flags: Precursor

Known Diseases associated with this Protein:
  GROWTH HORMONE DEFICIENCY, ISOLATED, 1B (IGHD1B)
  ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
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Default View:

HormR - smart00008
HRM - pfam02793
7tm_2 - pfam00002


Swiss-Prot Protein: Q02643
Identical to: NP_000814
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HRMpfam027939.3e-2452115
7tm_2pfam000022.2e-113126372
HormRsmart000082.8e-2451121

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015798Diseasep.ALA222GLUGrowth hormone deficiency, isolated, 1B (IGHD1B)
Swiss-ProtVAR_036223Polymorphismp.ALA45THRN/A
dbSNPrs4988496 Polymorphismp.ALA57THRN/A
Swiss-ProtVAR_015797Diseasep.ALA176VALGrowth hormone deficiency, isolated, 1B (IGHD1B)
dbSNPrs4988498 Polymorphismp.GLU121ASPN/A
Swiss-ProtVAR_015796Diseasep.LEU144HISGrowth hormone deficiency, isolated, 1B (IGHD1B)
Swiss-ProtVAR_015800Diseasep.LYS329GLUGrowth hormone deficiency, isolated, 1B (IGHD1B)
dbSNPrs2228078 Polymorphismp.MET422THRN/A
Swiss-ProtVAR_015799Diseasep.PHE242CYSGrowth hormone deficiency, isolated, 1B (IGHD1B)
dbSNPrs28371560 Polymorphismp.VAL225ILEN/A
OMIM139191.0005 Diseasep.ALA222GLUISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
OMIM139191.0001 Diseasep.GLU72TERISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
OMIM139191.0003 Diseasep.LEU144HISISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
OMIM139191.0006 Diseasep.LYS329GLUISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
OMIM139191.0004 Diseasep.PHE242CYSISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB



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