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Results for the Protein: Q9Y6H5
205831000

SNCAP_HUMAN RecName: Full=Synphilin-1; Short=Sph1; AltName: Full=Alpha-synuclein-interacting protein

Known Diseases associated with this Protein:
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
1
4
1
0
4
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Default View:

ANK - cd00204
ANK - smart00248
Ank - pfam00023


Swiss-Prot Protein: Q9Y6H5
Identical to: NP_005451
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002045.8e-21344477
Ankpfam000234.8e-07456488
ANKsmart002481.5e-05456485

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025667Polymorphismp.ARG621CYSN/A
Swiss-ProtVAR_065359Polymorphismp.GLU706GLNN/A
Swiss-ProtVAR_048312Polymorphismp.GLU235GLYN/A
Swiss-ProtVAR_065358Polymorphismp.VAL44ALAN/A
OMIM603779.0001 Diseasep.ARG621CYSRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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