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Results for the Protein: P52945
1708540

PDX1_HUMAN RecName: Full=Pancreas/duodenum homeobox protein 1; Short=PDX-1; AltName: Full=Glucose-sensitive factor; Short=GSF; AltName: Full=Insulin promoter factor 1; Short=IPF-1; AltName: Full=Insulin upstream factor 1; Short=IUF-1; AltName: Full=Islet/duodenum homeobox-1; Short=IDX-1; AltName: Full=Somatostatin-transactivating factor 1; Short=STF-1

Known Diseases associated with this Protein:
  DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
  DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO, INCLUDED
  MATURITY-ONSET DIABETES OF THE YOUNG 4 (MODY4)
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV
  PANCREATIC AGENESIS
11
1
8
0
4
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HOX - smart00389


Swiss-Prot Protein: P52945
Identical to: NP_000200
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HOXsmart003895.1e-27147202

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009312Diseasep.ARG197HISMaturity-onset diabetes of the young 4 (MODY4)
Swiss-ProtVAR_009311Polymorphismp.ASP76ASNN/A
Swiss-ProtVAR_009309Diseasep.CYS18ARGMaturity-onset diabetes of the young 4 (MODY4)
Swiss-ProtVAR_009310Diseasep.GLN59LEUMaturity-onset diabetes of the young 4 (MODY4)
OMIM600733.0006 Diseasep.ARG197HISDIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM600733.0002 Diseasep.ASP76ASNDIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM600733.0005 Diseasep.CYS18ARGDIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM600733.0003 Diseasep.GLN59LEUDIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM600733.0008 Diseasep.GLU164ASPPANCREATIC AGENESIS||DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO, INCLUDED
OMIM600733.0010 Diseasep.GLU178GLYPANCREATIC AGENESIS
OMIM600733.0009 Diseasep.GLU178LYSPANCREATIC AGENESIS
OMIM600733.0007 Diseasep.GLU224LYSMATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV



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