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Results for the Protein: Q9BUM1
74733234

G6PC3_HUMAN RecName: Full=Glucose-6-phosphatase 3; Short=G-6-Pase 3; Short=G6Pase 3; AltName: Full=Glucose-6-phosphatase beta; Short=G6Pase-beta; AltName: Full=Ubiquitous glucose-6-phosphatase catalytic subunit-related protein

Known Diseases associated with this Protein:
  DURSUN SYNDROME
  DURSUN SYNDROME (DURSS)
  NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE (SCN4)
  NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
13
1
6
1
7
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Default View:

PAP2_like_2 - cd03392
PgpB - COG0671
PAP2_dolichyldiphosp - cd03382
PAP2_like_3 - cd03393
PAP2_glucose_6_phosp - cd03381
PAP2_like - cd01610
PAP2 - pfam01569
acidPPc - smart00014


Swiss-Prot Protein: Q9BUM1
Identical to: NP_612396
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAP2_like_2cd033920.000421193
PAP2_dolichyldiphospcd033820.000273187
PgpBCOG06711.2e-053205
PAP2_like_3cd033938.7e-0537187
PAP2_glucose_6_phospcd033811.4e-13038270
PAP2_likecd016109.5e-2050187
PAP2pfam015691e-2053195
acidPPcsmart000144.4e-1658187

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064510Diseasep.ARG189GLNNeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_055157Diseasep.ARG253HISNeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_064511Diseasep.GLY260ARGNeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_055158Diseasep.GLY262ARGNeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_055156Diseasep.LEU185PRONeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_064508Diseasep.MET116LYSNeutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-ProtVAR_064509Diseasep.MET116VALDursun syndrome (DURSS)
dbSNPrs34406052 Polymorphismp.THR216ILEN/A
OMIM611045.0001 Diseasep.ARG253HISNEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM611045.0007 Diseasep.GLY260ARGNEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM611045.0004 Diseasep.GLY262ARGNEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM611045.0002 Diseasep.LEU185PRONEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM611045.0006 Diseasep.MET116VALDURSUN SYNDROME
OMIM611045.0003 Diseasep.TYR47TERNEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE



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