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Results for the Protein: O00522
77432385
889

KRIT1_HUMAN RecName: Full=Krev interaction trapped protein 1; Short=Krev interaction trapped 1; AltName: Full=Cerebral cavernous malformations 1 protein

Known Diseases associated with this Protein:
  CEREBRAL CAVERNOUS MALFORMATIONS 1
  CEREBRAL CAVERNOUS MALFORMATIONS 1 (CCM1)
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0
3
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2
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Default View:

Arp - COG0666
ANK - cd00204
ANK - smart00248
B41 - smart00295
FERM_M - pfam00373




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002041.8e-27282412
FERM_Mpfam003731.6e-30522640
ANKsmart002480.00011320350
B41smart002952.9e-45417640

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023574Diseasep.LYS569GLUCerebral cavernous malformations 1 (CCM1)
Swiss-ProtVAR_023573Diseasep.PHE97SERCerebral cavernous malformations 1 (CCM1)
OMIM604214.0008 Diseasep.ASP137GLYCEREBRAL CAVERNOUS MALFORMATIONS 1
OMIM604214.0011 Diseasep.CYS329TERCEREBRAL CAVERNOUS MALFORMATIONS 1
OMIM604214.0009 Diseasep.GLN201GLUCEREBRAL CAVERNOUS MALFORMATIONS 1



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