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Results for the Protein: P06737
6648082

PYGL_HUMAN RecName: Full=Glycogen phosphorylase, liver form

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 6 (GSD6)
  GLYCOGEN STORAGE DISEASE VI
4
7
2
4
5
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Default View:

GlgP - COG0058
GT1_Glycogen_Phospho - cd04300
Glycosyltransferase_ - cd01635
Phosphorylase - pfam00343


Swiss-Prot Protein: P06737
Identical to: NP_002854
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GlgPCOG005819830
GT1_Glycogen_Phosphocd0430029828
Glycosyltransferase_cd016351.2e-11383712
Phosphorylasepfam00343112830

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2228499 Polymorphismp.ARG425PRON/A
Swiss-ProtVAR_013096Polymorphismp.ARG715SERN/A
Swiss-ProtVAR_007909Diseasep.ASN377LYSGlycogen storage disease 6 (GSD6)
Swiss-ProtVAR_007908Diseasep.ASN339SERGlycogen storage disease 6 (GSD6)
dbSNPrs78558135 Polymorphismp.ASN845SERN/A
Swiss-ProtVAR_034427Polymorphismp.ILE806LEUN/A
Swiss-ProtVAR_013095Polymorphismp.VAL231GLUN/A
dbSNPrs35831273 Polymorphismp.VAL698GLYN/A
dbSNPrs946616 Polymorphismp.VAL222ILEN/A
OMIM613741.0004 Diseasep.ASN376LYSGLYCOGEN STORAGE DISEASE VI
OMIM613741.0003 Diseasep.ASN338SERGLYCOGEN STORAGE DISEASE VI



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