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Results for the Protein: Q8WVQ1
66774052

CANT1_HUMAN RecName: Full=Soluble calcium-activated nucleotidase 1; Short=SCAN-1; AltName: Full=Apyrase homolog; AltName: Full=Putative MAPK-activating protein PM09; AltName: Full=Putative NF-kappa-B-activating protein 107

Known Diseases associated with this Protein:
  DESBUQUOIS DYSPLASIA
  DESBUQUOIS DYSPLASIA (DBQD)
  DESBUQUOIS DYSPLASIA, KIM VARIANT
19
2
8
1
12
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Default View:

Apyrase - pfam06079




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Apyrasepfam060791.2e-209113401

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068662Diseasep.ALA360ASPDesbuquois dysplasia (DBQD)
dbSNPrs9903215 Polymorphismp.ALA323THRN/A
Swiss-ProtVAR_062981Diseasep.ARG300CYSDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_062982Diseasep.ARG300HISDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068655Diseasep.ASP112GLUDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068664Polymorphismp.GLY391GLUN/A
Swiss-ProtVAR_068663Diseasep.ILE374ASNDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068658Diseasep.LEU224PRODesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068657Diseasep.MET165THRDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_062980Diseasep.PRO299LEUDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068660Diseasep.SER303ARGDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068656Diseasep.TRP125CYSDesbuquois dysplasia (DBQD)
Swiss-ProtVAR_068659Diseasep.VAL226METDesbuquois dysplasia (DBQD)
OMIM613165.0014 Diseasep.ALA360ASPDESBUQUOIS DYSPLASIA, KIM VARIANT
OMIM613165.0003 Diseasep.ARG300CYSDESBUQUOIS DYSPLASIA
OMIM613165.0004 Diseasep.ARG300HISDESBUQUOIS DYSPLASIA
OMIM613165.0011 Diseasep.LEU224PRODESBUQUOIS DYSPLASIA
OMIM613165.0007 Diseasep.PRO299LEUDESBUQUOIS DYSPLASIA
OMIM613165.0012 Diseasep.TRP125CYSDESBUQUOIS DYSPLASIA
OMIM613165.0006 Diseasep.TRP125TERDESBUQUOIS DYSPLASIA
OMIM613165.0013 Diseasep.VAL226METDESBUQUOIS DYSPLASIA, KIM VARIANT



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