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Results for the Protein: P11168
121756

GTR2_HUMAN RecName: Full=Solute carrier family 2, facilitated glucose transporter member 2; AltName: Full=Glucose transporter type 2, liver; Short=GLUT-2

Known Diseases associated with this Protein:
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  FANCONI-BICKEL SYNDROME
  FANCONI-BICKEL SYNDROME (FBS)
11
6
8
2
7
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Default View:

Sugar_tr - pfam00083
MFS - cd06174
ProP - COG0477
MFS_1 - pfam07690


Swiss-Prot Protein: P11168
Identical to: NP_000331
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFScd061743.7e-5114484
ProPCOG04777.4e-0843490
Sugar_trpfam000832.6e-21912499
MFS_1pfam076905e-0859451

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052501Polymorphismp.ILE404THRN/A
Swiss-ProtVAR_018651Diseasep.LEU389PROFanconi-Bickel syndrome (FBS)
dbSNPrs5397 Polymorphismp.LEU478VALN/A
Swiss-ProtVAR_018652Diseasep.PRO417LEUFanconi-Bickel syndrome (FBS)
Swiss-ProtVAR_007169Polymorphismp.PRO68LEUN/A
dbSNPrs5400 Polymorphismp.THR110ILEN/A
Swiss-ProtVAR_018653Diseasep.VAL423GLUFanconi-Bickel syndrome (FBS)
Swiss-ProtVAR_014718Polymorphismp.VAL101ILEN/A
Swiss-ProtVAR_018650Polymorphismp.VAL197ILEN/A
OMIM138160.0004 Diseasep.ARG301TERFANCONI-BICKEL SYNDROME
OMIM138160.0003 Diseasep.ARG365TERFANCONI-BICKEL SYNDROME
OMIM138160.0014 Diseasep.GLN287TERFANCONI-BICKEL SYNDROME
OMIM138160.0015 Diseasep.LEU389PROFANCONI-BICKEL SYNDROME
OMIM138160.0005 Diseasep.PRO417LEUFANCONI-BICKEL SYNDROME
OMIM138160.0006 Diseasep.TRP420TERFANCONI-BICKEL SYNDROME
OMIM138160.0012 Diseasep.VAL423GLUFANCONI-BICKEL SYNDROME
OMIM138160.0001 Diseasep.VAL197ILEDIABETES MELLITUS, NONINSULIN-DEPENDENT



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