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Results for the Protein: P14416
118206

DRD2_HUMAN RecName: Full=D(2) dopamine receptor; AltName: Full=Dopamine D2 receptor

Known Diseases associated with this Protein:
  MYOCLONUS-DYSTONIA SYNDROME
1
4
1
1
3
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Default View:

7TM_GPCR_Srsx - pfam10320
7tm_1 - pfam00001


Swiss-Prot Protein: P14416
Identical to: NP_000786
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000013.1e-16057426
7TM_GPCR_Srsxpfam103200.0001545281

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064579Polymorphismp.LYS327GLUN/A
Swiss-ProtVAR_014674Polymorphismp.PRO310SERN/A
dbSNPrs1801028 Polymorphismp.SER311CYSN/A
Swiss-ProtVAR_017143Polymorphismp.VAL154ILEN/A
OMIM126450.0001 Diseasep.VAL154ILEMYOCLONUS-DYSTONIA SYNDROME



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