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Results for the Protein: Q9UBL9
12643353

P2RX2_HUMAN RecName: Full=P2X purinoceptor 2; Short=P2X2; AltName: Full=ATP receptor; AltName: Full=Purinergic receptor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 41
2
0
2
0
0
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Default View:

P2X_receptor - pfam00864


Swiss-Prot Protein: Q9UBL9
Identical to: NP_733782
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
P2X_receptorpfam008641.3e-19026394

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600844.0002 Diseasep.GLY353ARGDEAFNESS, AUTOSOMAL DOMINANT 41
OMIM600844.0001 Diseasep.VAL60LEUDEAFNESS, AUTOSOMAL DOMINANT 41



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