Results for the protein: P54840

Results for the Protein: P54840

288558811

2998

GYS2

NCBI, UniProt

GYS2_HUMAN RecName: Full=Glycogen [starch] synthase, liver

Known Diseases associated with this Protein:
GLYCOGEN STORAGE DISEASE 0 (GSD0)
GLYCOGEN STORAGE DISEASE 0, LIVER

13

4

7

3

7

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Default View: GT1_Glycogen_synthas - cd03793 Glycogen_syn - pfam05693 Glycosyltransferase_ - cd01635	Swiss-Prot Protein: P54840 Identical to: NP_068776 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glycosyltransferase_	cd01635	1e-26	33	550
Glycogen_syn	pfam05693		32	663

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007861	Disease	p.ALA339PRO	Glycogen storage disease 0 (GSD0)
Swiss-Prot	VAR_055885	Polymorphism	p.ALA193THR	N/A
Swiss-Prot	VAR_007860	Disease	p.ASN39SER	Glycogen storage disease 0 (GSD0)
dbSNP	rs16924002	Polymorphism	p.ASP415GLU	N/A
Swiss-Prot	VAR_007862	Disease	p.HIS446ASP	Glycogen storage disease 0 (GSD0)
Swiss-Prot	VAR_007865	Disease	p.MET491ARG	Glycogen storage disease 0 (GSD0)
dbSNP	rs2306180	Polymorphism	p.MET363VAL	N/A
Swiss-Prot	VAR_007863	Disease	p.PRO479GLN	Glycogen storage disease 0 (GSD0)
Swiss-Prot	VAR_007864	Disease	p.SER483PRO	Glycogen storage disease 0 (GSD0)
dbSNP	rs61733199	Polymorphism	p.THR546ALA	N/A
OMIM	138571.0004	Disease	p.ALA339PRO	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0001	Disease	p.ARG246TER	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0006	Disease	p.ASN39SER	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0008	Disease	p.HIS446ASP	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0005	Disease	p.MET491ARG	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0003	Disease	p.PRO479GLN	GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM	138571.0007	Disease	p.SER483PRO	GLYCOGEN STORAGE DISEASE 0, LIVER

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