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Results for the Protein: Q9HCE0
158705892

EPG5_HUMAN RecName: Full=Ectopic P granules protein 5 homolog

Known Diseases associated with this Protein:
  VICI SYDROME
  VICI SYNDROME
  VICI SYNDROME (VICIS)
5
16
4
13
4
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Swiss-Prot Protein: Q9HCE0
Identical to: NP_066015
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036525Polymorphismp.ALA1511THRN/A
dbSNPrs1893523 Polymorphismp.ALA1511VALN/A
dbSNPrs186784974 Polymorphismp.ARG1501GLNN/A
dbSNPrs34674177 Polymorphismp.ARG1985GLNN/A
Swiss-ProtVAR_036527Polymorphismp.ARG2056TRPN/A
dbSNPrs144860976 Polymorphismp.ASN1347HISN/A
Swiss-ProtVAR_036526Polymorphismp.CYS1865TYRN/A
Swiss-ProtVAR_069224Diseasep.GLN336ARGVici syndrome (VICIS)
dbSNPrs61734402 Polymorphismp.GLN589ARGN/A
dbSNPrs3744999 Polymorphismp.GLU844ASPN/A
dbSNPrs3744997 Polymorphismp.ILE1131VALN/A
dbSNPrs59422275 Polymorphismp.LYS182GLUN/A
dbSNPrs34064739 Polymorphismp.SER1864ASNN/A
dbSNPrs117817123 Polymorphismp.SER424ASNN/A
dbSNPrs78339727 Polymorphismp.SER1083LEUN/A
dbSNPrs180913079 Polymorphismp.SER267LEUN/A
dbSNPrs3744998 Polymorphismp.VAL1058ALAN/A
OMIM615068.0003 Diseasep.ARG1161TERVICI SYDROME
OMIM615068.0005 Diseasep.ARG2078TERVICI SYNDROME
OMIM615068.0001 Diseasep.GLN1530TERVICI SYNDROME
OMIM615068.0004 Diseasep.GLU859TERVICI SYNDROME



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