Results for the protein: Q93100

Results for the Protein: Q93100

2499582

5257

PHKB

NCBI, UniProt

KPBB_HUMAN RecName: Full=Phosphorylase b kinase regulatory subunit beta; Short=Phosphorylase kinase subunit beta

Known Diseases associated with this Protein:
GLYCOGEN STORAGE DISEASE 9B (GSD9B)
GLYCOGEN STORAGE DISEASE IXB

6

5

5

1

5

Tips:

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Default View: Glyco_hydro_15 - pfam00723	Swiss-Prot Protein: Q93100 Identical to: NP_000284 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015536	Disease	p.ALA118PRO	Glycogen storage disease 9B (GSD9B)
Swiss-Prot	VAR_020857	Polymorphism	p.GLN657LYS	N/A
Swiss-Prot	VAR_034056	Polymorphism	p.GLU820VAL	N/A
Swiss-Prot	VAR_036487	Polymorphism	p.GLY877ARG	N/A
Swiss-Prot	VAR_036486	Polymorphism	p.LEU867VAL	N/A
dbSNP	rs16945474	Polymorphism	p.TYR770CYS	N/A
OMIM	172490.0005	Disease	p.ALA117PRO	GLYCOGEN STORAGE DISEASE IXb
OMIM	172490.0002	Disease	p.GLN656TER	GLYCOGEN STORAGE DISEASE IXb
OMIM	172490.0004	Disease	p.GLU975TER	GLYCOGEN STORAGE DISEASE IXb
OMIM	172490.0004	Disease	p.TYR974HIS	GLYCOGEN STORAGE DISEASE IXb
OMIM	172490.0003	Disease	p.TYR418TER	GLYCOGEN STORAGE DISEASE IXb

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