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Results for the Protein: Q15051
3123054

IQCB1_HUMAN RecName: Full=IQ calmodulin-binding motif-containing protein 1; AltName: Full=Nephrocystin-5; AltName: Full=p53 and DNA damage-regulated IQ motif protein; Short=PIQ

Known Diseases associated with this Protein:
  SENIOR-LOKEN SYNDROME 5
4
4
4
3
1
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Default View:

IQ - smart00015


Swiss-Prot Protein: Q15051
Identical to: NP_001018864
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IQsmart000154.9e-08386408

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_051076Polymorphismp.ARG435CYSN/A
dbSNPrs17849995 Polymorphismp.CYS434TYRN/A
dbSNPrs1141528 Polymorphismp.ILE393ASNN/A
dbSNPrs11926958 Polymorphismp.PHE142LEUN/A
OMIM609237.0001 Diseasep.ARG461TERSENIOR-LOKEN SYNDROME 5
OMIM609237.0008 Diseasep.ARG489TERSENIOR-LOKEN SYNDROME 5
OMIM609237.0005 Diseasep.GLN357TERSENIOR-LOKEN SYNDROME 5
OMIM609237.0009 Diseasep.GLU346TERSENIOR-LOKEN SYNDROME 5



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