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Results for the Protein: Q15437
20141794

SC23B_HUMAN RecName: Full=Protein transport protein Sec23B; AltName: Full=SEC23-related protein B

Known Diseases associated with this Protein:
  ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
  CONGENITAL DYSERYTHROPOIETIC ANEMIA 2 (CDA2)
12
12
6
3
15
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Default View:

Sec23_BS - pfam08033




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sec23_BSpfam080331.3e-48403506

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062306Polymorphismp.ALA524VALN/A
Swiss-ProtVAR_062305Polymorphismp.ARG497CYSN/A
Swiss-ProtVAR_062309Diseasep.ARG701CYSCongenital dyserythropoietic anemia 2 (CDA2)
Swiss-ProtVAR_062295Polymorphismp.ARG18HISN/A
Swiss-ProtVAR_062298Polymorphismp.ARG313HISN/A
Swiss-ProtVAR_062294Diseasep.ARG14TRPCongenital dyserythropoietic anemia 2 (CDA2)
Swiss-ProtVAR_062307Diseasep.ARG530TRPCongenital dyserythropoietic anemia 2 (CDA2)
Swiss-ProtVAR_062300Diseasep.ASP348ALACongenital dyserythropoietic anemia 2 (CDA2)
Swiss-ProtVAR_062297Polymorphismp.ASP239GLYN/A
Swiss-ProtVAR_062302Polymorphismp.GLN386ARGN/A
Swiss-ProtVAR_062296Diseasep.GLU109LYSCongenital dyserythropoietic anemia 2 (CDA2)
dbSNPrs2273526 Polymorphismp.HIS489GLNN/A
Swiss-ProtVAR_062299Polymorphismp.ILE318THRN/A
Swiss-ProtVAR_062301Polymorphismp.MET373VALN/A
dbSNPrs17807673 Polymorphismp.PRO433LEUN/A
Swiss-ProtVAR_062308Diseasep.SER603LEUCongenital dyserythropoietic anemia 2 (CDA2)
Swiss-ProtVAR_062304Polymorphismp.TYR462CYSN/A
dbSNPrs41309927 Polymorphismp.VAL426ILEN/A
OMIM610512.0006 Diseasep.ARG217TERANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM610512.0004 Diseasep.ARG264TERANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM610512.0005 Diseasep.ARG324TERANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM610512.0002 Diseasep.ARG14TRPANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM610512.0003 Diseasep.ARG530TRPANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM610512.0001 Diseasep.GLU109LYSANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II



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