Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.I524V

GYS1

135 papers

RefSeq Summary

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associate...

Pfam Domains

Glycogen_synaa 31–663UCSCGlycogen synthase

Gene Aliases

HGNC Name

glycogen synthase 1

HGNC Alias Symbol

GSY

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002103.5
p.I524V
c.1570A>G
Surrounding Variants
1 paper
NM_002103.5
p.G549Splc
c.1646-61T>A
1 paper
NM_002103.5
p.G549fs
c.1645_1646fs
1 paper
NM_002103.5
p.I550fs
c.1648_1649fs
1 paper
NM_002103.5
p.R558C
c.1672C>T
1 paper
NM_002103.5
p.D561G
c.1682A>G
1 paper
NM_002103.5
p.Y572_S573insAAA
c.1714_1718ins9
1 paper
NM_002103.5
p.T589M
c.1766C>T
1 paper
NM_002103.5
p.D594Y
c.1780G>T
1 paper
NM_002103.5
p.R603R
c.1809G>A
2 papers
NM_002103.5
p.R603_Y604Splc
c.1810-2A>G
1 paper
NM_002103.5
p.S614F
c.1841C>T
1 paper
NM_002103.5
p.T622I
c.1865C>T
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