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Results for the Protein: Q9NRM0
300669647

GTR9_HUMAN RecName: Full=Solute carrier family 2, facilitated glucose transporter member 9; AltName: Full=Glucose transporter type 9; Short=GLUT-9

Known Diseases associated with this Protein:
  HYPOURICEMIA RENAL 2 (RHUC2)
  HYPOURICEMIA, RENAL, 2
8
10
3
4
11
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Default View:

ProP - COG0477
Sugar_tr - pfam00083
MFS - cd06174
MFS_1 - pfam07690
AraJ - COG2814


Swiss-Prot Protein: Q9NRM0
Identical to: NP_064425
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ProPCOG04772.2e-0758504
MFScd061741.9e-4161499
Sugar_trpfam000831.3e-10859514
AraJCOG28147.7e-0595507
MFS_1pfam076906.9e-0964466

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065774Diseasep.ARG171CYSHypouricemia renal 2 (RHUC2)
Swiss-ProtVAR_065775Diseasep.ARG198CYSHypouricemia renal 2 (RHUC2)
dbSNPrs3733591 Polymorphismp.ARG294HISN/A
Swiss-ProtVAR_045653Polymorphismp.ARG300HISN/A
Swiss-ProtVAR_065776Diseasep.ARG380TRPHypouricemia renal 2 (RHUC2)
Swiss-ProtVAR_045652Polymorphismp.ASP281HISN/A
Swiss-ProtVAR_045649Polymorphismp.GLU191ASPN/A
Swiss-ProtVAR_045650Polymorphismp.GLY216ARGN/A
dbSNPrs2276961 Polymorphismp.GLY25ARGN/A
Swiss-ProtVAR_065772Diseasep.LEU75ARGHypouricemia renal 2 (RHUC2)
dbSNPrs2280205 Polymorphismp.PRO350LEUN/A
Swiss-ProtVAR_045648Polymorphismp.SER22ASNN/A
Swiss-ProtVAR_065773Diseasep.THR125METHypouricemia renal 2 (RHUC2)
Swiss-ProtVAR_045651Polymorphismp.THR275METN/A
dbSNPrs16890979 Polymorphismp.VAL282ILEN/A
OMIM606142.0005 Diseasep.ARG198CYSHYPOURICEMIA, RENAL, 2
OMIM606142.0004 Diseasep.ARG380TRPHYPOURICEMIA, RENAL, 2
OMIM606142.0006 Diseasep.PRO412ARGHYPOURICEMIA, RENAL, 2



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