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Results for the Protein: P50148
251757492

GNAQ_HUMAN RecName: Full=Guanine nucleotide-binding protein G(q) subunit alpha; AltName: Full=Guanine nucleotide-binding protein alpha-q

Known Diseases associated with this Protein:
  CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, INCLUDED
  STURGE-WEBER SYNDROME (SWS)
  STURGE-WEBER SYNDROME, SOMATIC, MOSAIC
2
2
1
0
3
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Default View:

G-alpha - pfam00503
G_alpha - smart00275
G-alpha - cd00066
Ras_like_GTPase - cd00882


Swiss-Prot Protein: P50148
Identical to: NP_002063
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ras_like_GTPasecd008825.9e-0544346
G-alphapfam005035.2e-24112358
G_alphasmart002756.3e-21519357

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067270Diseasep.ARG183GLNSturge-Weber syndrome (SWS)
Swiss-ProtVAR_067271Polymorphismp.GLN209LEUN/A
Swiss-ProtVAR_059319Polymorphismp.GLU355ASPN/A
OMIM600998.0001 Diseasep.ARG183GLNSTURGE-WEBER SYNDROME, SOMATIC, MOSAIC||CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, INCLUDED



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