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Results for the Protein: Q6X4W1
71152011

NSMF_HUMAN RecName: Full=NMDA receptor synaptonuclear signaling and neuronal migration factor; AltName: Full=Nasal embryonic luteinizing hormone-releasing hormone factor; Short=Nasal embryonic LHRH factor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (HH9)
2
2
0
1
3
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Swiss-Prot Protein: Q6X4W1
Identical to: NP_001124441
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34177733 Polymorphismp.LEU511VALN/A
Swiss-ProtVAR_069967Diseasep.ARG196HISHypogonadotropic hypogonadism 9 with or without anosmia (HH9)
Swiss-ProtVAR_059699Polymorphismp.LEU511VALN/A
Swiss-ProtVAR_023003Diseasep.THR480ALAHypogonadotropic hypogonadism 9 with or without anosmia (HH9)



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