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Results for the Protein: NP_001159395
260064065

hepatocyte nuclear factor 1-beta isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  RENAL CYSTS AND DIABETES SYNDROME
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Default View:

HNF-1_N - pfam04814
homeodomain - cd00086
HOX - smart00389
HNF-1B_C - pfam04812




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HNF-1_Npfam048141.8e-1201182
HNF-1B_Cpfam048124.3e-151288525
HOXsmart003891.9e-19206282

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM189907.0014 Diseasep.ARG165HISRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0001 Diseasep.ARG177TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0006 Diseasep.ARG250TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0004 Diseasep.GLU101TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0007 Diseasep.SER439ARGDIABETES MELLITUS, NONINSULIN-DEPENDENT
OMIM189907.0011 Diseasep.SER148TRPRENAL CYSTS AND DIABETES SYNDROME



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