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Results for the Protein: Q9H2C0
13626745
GAN

GAN_HUMAN RecName: Full=Gigaxonin; AltName: Full=Kelch-like protein 16

Known Diseases associated with this Protein:
  GIANT AXONAL NEUROPATHY (GAN)
  GIANT AXONAL NEUROPATHY 1
27
0
8
0
19
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Default View:

BTB - smart00225
BACK - smart00875
BACK - pfam07707
Kelch - smart00612


Swiss-Prot Protein: Q9H2C0
Identical to: NP_071324
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BACKpfam077071.5e-39134234
BACKsmart008751.1e-30134235
Kelchsmart006121.5e-13327374
Kelchsmart006120.00094375421
Kelchsmart006128.5e-08422468

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054113Diseasep.ALA51PROGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010766Diseasep.ARG545CYSGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010764Diseasep.ARG269GLNGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010763Diseasep.ARG138HISGiant axonal neuropathy (GAN)
Swiss-ProtVAR_054118Diseasep.ARG545HISGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010759Diseasep.ARG15SERGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010767Diseasep.CYS570TYRGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010757Diseasep.GLU486LYSGiant axonal neuropathy (GAN)
Swiss-ProtVAR_015681Diseasep.GLY368ARGGiant axonal neuropathy (GAN)
Swiss-ProtVAR_054117Diseasep.GLY474ARGGiant axonal neuropathy (GAN)
Swiss-ProtVAR_015680Diseasep.ILE86PHEGiant axonal neuropathy (GAN)
Swiss-ProtVAR_015560Diseasep.ILE423THRGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010765Diseasep.LEU309ARGGiant axonal neuropathy (GAN)
Swiss-ProtVAR_054116Diseasep.PRO315LEUGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010760Diseasep.SER52GLYGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010761Diseasep.SER79LEUGiant axonal neuropathy (GAN)
Swiss-ProtVAR_054114Diseasep.TYR89CYSGiant axonal neuropathy (GAN)
Swiss-ProtVAR_054115Diseasep.VAL195PHEGiant axonal neuropathy (GAN)
Swiss-ProtVAR_010762Diseasep.VAL82PHEGiant axonal neuropathy (GAN)
OMIM605379.0006 Diseasep.ARG138HISGIANT AXONAL NEUROPATHY 1
OMIM605379.0007 Diseasep.ARG15SERGIANT AXONAL NEUROPATHY 1
OMIM605379.0004 Diseasep.ARG201TERGIANT AXONAL NEUROPATHY 1
OMIM605379.0008 Diseasep.ARG477TERGIANT AXONAL NEUROPATHY 1
OMIM605379.0002 Diseasep.GLN483TERGIANT AXONAL NEUROPATHY 1
OMIM605379.0009 Diseasep.GLU169LYSGIANT AXONAL NEUROPATHY 1
OMIM605379.0001 Diseasep.GLU486LYSGIANT AXONAL NEUROPATHY 1
OMIM605379.0005 Diseasep.ILE423THRGIANT AXONAL NEUROPATHY 1



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