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Results for the Protein: Q63HN8
380865458

RN213_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF213; AltName: Full=ALK lymphoma oligomerization partner on chromosome 17; AltName: Full=Mysterin; AltName: Full=RING finger protein 213

Known Diseases associated with this Protein:
  MOYAMOYA DISEASE 2 (MYMY2)
1
15
0
0
16
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Default View:

RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097


Swiss-Prot Protein: Q63HN8
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001627e-0939964039
zf-C3HC4pfam000972.1e-0539974035
RINGsmart001841.6e-0739974035

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067026Polymorphismp.ALA4399THRN/A
Swiss-ProtVAR_067033Polymorphismp.ALA5021VALN/A
Swiss-ProtVAR_067025Polymorphismp.ARG4062GLNN/A
Swiss-ProtVAR_067030Diseasep.ARG4810LYSMoyamoya disease 2 (MYMY2)
Swiss-ProtVAR_067023Polymorphismp.ASN3962ASPN/A
Swiss-ProtVAR_067024Polymorphismp.ASP4013ASNN/A
Swiss-ProtVAR_067031Polymorphismp.ASP4863ASNN/A
Swiss-ProtVAR_067020Polymorphismp.ASP2554GLUN/A
Swiss-ProtVAR_067034Polymorphismp.ASP5160GLUN/A
Swiss-ProtVAR_067032Polymorphismp.GLU4950ASPN/A
Swiss-ProtVAR_067022Polymorphismp.GLU3915GLYN/A
Swiss-ProtVAR_067035Polymorphismp.GLU5176GLYN/A
Swiss-ProtVAR_067021Polymorphismp.MET3891VALN/A
Swiss-ProtVAR_067028Polymorphismp.PRO4608SERN/A
Swiss-ProtVAR_067027Polymorphismp.VAL4567METN/A
Swiss-ProtVAR_067029Polymorphismp.VAL4765METN/A



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