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Results for the Protein: O95479
108884809

G6PE_HUMAN RecName: Full=GDH/6PGL endoplasmic bifunctional protein; Includes: RecName: Full=Glucose 1-dehydrogenase; AltName: Full=Hexose-6-phosphate dehydrogenase; Includes: RecName: Full=6-phosphogluconolactonase; Short=6PGL; Flags: Precursor

Known Diseases associated with this Protein:
  CORTISONE REDUCTASE DEFICIENCY (CRD)
2
6
0
5
3
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Default View:

Zwf - COG0364
G6PD_N - pfam00479
G6PD_C - pfam02781
NagB - COG0363
SugarP_isomerase - cd00458
GlcN6P_deaminase - cd01399
6PGL - cd01400


Swiss-Prot Protein: O95479
Identical to: NP_004276
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZwfCOG03641.2e-5618520
NagBCOG03633.6e-49548791
SugarP_isomerasecd004581.3e-06560783
GlcN6P_deaminasecd013995e-08561790
6PGLcd014008.2e-92561784
G6PD_Npfam004791.4e-3329221
G6PD_Cpfam027817.3e-18215514

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_049118Polymorphismp.ARG218GLNN/A
dbSNPrs6688832 Polymorphismp.ARG453GLNN/A
Swiss-ProtVAR_026487Diseasep.ARG453GLNCortisone reductase deficiency (CRD)
dbSNPrs35404275 Polymorphismp.ASN484ASPN/A
dbSNPrs34603401 Polymorphismp.ASP151ALAN/A
Swiss-ProtVAR_069193Diseasep.PRO146LEUCortisone reductase deficiency (CRD)
dbSNPrs17368528 Polymorphismp.PRO554LEUN/A
dbSNPrs201992885 Polymorphismp.SER723PRON/A



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