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Results for the Protein: Q6P1J9
74749063

CDC73_HUMAN RecName: Full=Parafibromin; AltName: Full=Cell division cycle protein 73 homolog; AltName: Full=Hyperparathyroidism 2 protein

Known Diseases associated with this Protein:
  FAMILIAL ISOLATED HYPERPARATHYROIDISM (FIHP)
  HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
  HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
  HYPERPARATHYROIDISM-JAW TUMOR SYNDROME (HPT-JT)
  PARATHYROID CARCINOMA, SOMATIC
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9
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Default View:

CDC73 - COG5157
CDC73 - pfam05179


Swiss-Prot Protein: Q6P1J9
Identical to: NP_078805
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CDC73COG51574e-06153530
CDC73pfam051791.3e-189233525

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064927Polymorphismp.ALA2SERN/A
Swiss-ProtVAR_064935Polymorphismp.ARG292LYSN/A
Swiss-ProtVAR_064932Polymorphismp.ARG91PRON/A
Swiss-ProtVAR_064934Polymorphismp.ASN272SERN/A
Swiss-ProtVAR_064936Diseasep.ASP379ASNHyperparathyroidism-jaw tumor syndrome (HPT-JT)
dbSNPrs35590728 Polymorphismp.LEU384PRON/A
Swiss-ProtVAR_064931Polymorphismp.LEU63PRON/A
Swiss-ProtVAR_024082Diseasep.LEU64PROFamilial isolated hyperparathyroidism (FIHP)
Swiss-ProtVAR_064933Polymorphismp.LEU95PRON/A
Swiss-ProtVAR_064929Polymorphismp.LYS34GLNN/A
Swiss-ProtVAR_064930Polymorphismp.SER59PHEN/A
OMIM607393.0002 Diseasep.ARG9TERHYPERPARATHYROIDISM-JAW TUMOR SYNDROME
OMIM607393.0006 Diseasep.LEU64PROHYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
OMIM607393.0001 Diseasep.MET1ILEHYPERPARATHYROIDISM-JAW TUMOR SYNDROME
OMIM607393.0005 Diseasep.TRP43TERPARATHYROID CARCINOMA, SOMATIC
OMIM607393.0008 Diseasep.TYR54TERPARATHYROID CARCINOMA, SOMATIC



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