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Results for the Protein: P35680
547664

HNF1B_HUMAN RecName: Full=Hepatocyte nuclear factor 1-beta; Short=HNF-1-beta; Short=HNF-1B; AltName: Full=Homeoprotein LFB3; AltName: Full=Transcription factor 2; Short=TCF-2; AltName: Full=Variant hepatic nuclear factor 1; Short=vHNF1

Known Diseases associated with this Protein:
  DIABETES MELLITUS, NON-INSULIN-DEPENDENT (NIDDM)
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  RENAL CYSTS AND DIABETES SYNDROME
  RENAL CYSTS AND DIABETES SYNDROME (RCAD)
30
1
6
0
25
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Default View:

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


Swiss-Prot Protein: P35680
Identical to: NP_000449
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000866e-18232311
HNF-1_Npfam048141.8e-1201182
HNF-1B_Cpfam048124.3e-151314551
HOXsmart003891.9e-19232308

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046026Diseasep.ALA241THRRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046031Diseasep.ARG295CYSRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046025Diseasep.ARG235GLNRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046029Diseasep.ARG276GLNRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046028Diseasep.ARG276GLYRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046024Diseasep.ARG165HISRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046032Diseasep.ARG295HISRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046016Diseasep.ARG112PRORenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046033Diseasep.ARG295PRORenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046017Diseasep.GLN136GLURenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046027Diseasep.GLU260ASPRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046030Diseasep.GLY285ASPRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046014Diseasep.GLY76CYSRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046034Diseasep.GLY370SERRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_012058Polymorphismp.GLY492SERN/A
Swiss-ProtVAR_046021Diseasep.HIS153ASNRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046023Diseasep.LYS164GLNRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046022Diseasep.LYS156GLURenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_017665Diseasep.SER465ARGDiabetes mellitus, non-insulin-dependent (NIDDM)
Swiss-ProtVAR_046018Diseasep.SER148LEURenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046012Diseasep.SER36PHERenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046020Diseasep.SER151PRORenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046019Diseasep.SER148TRPRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046015Diseasep.VAL110GLYRenal cysts and diabetes syndrome (RCAD)
Swiss-ProtVAR_046013Diseasep.VAL61GLYRenal cysts and diabetes syndrome (RCAD)
OMIM189907.0014 Diseasep.ARG165HISRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0001 Diseasep.ARG177TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0006 Diseasep.ARG276TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0004 Diseasep.GLU101TERRENAL CYSTS AND DIABETES SYNDROME
OMIM189907.0007 Diseasep.SER465ARGDIABETES MELLITUS, NONINSULIN-DEPENDENT
OMIM189907.0011 Diseasep.SER148TRPRENAL CYSTS AND DIABETES SYNDROME



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