Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.D56fs

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.D56fs
c.166_167fs
Surrounding Variants
1 paper
NM_002103.5
p.T54_G55delFs
c.162_163delCT
1 paper
NM_002103.5
p.V53G
c.158T>G
1 paper
NM_002103.5
p.W58C
c.174G>C
1 paper
NM_002103.5
p.L47L
c.139C>T
2 papers
NM_002103.5
p.Q71H
c.213G>T
2 papers
NM_002103.5
p.Q71H
c.213G>C
1 paper
NM_002103.5
p.G72G
c.216C>T
1 paper
NM_002103.5
p.V73V
c.219G>T
1 paper
NM_002103.5
p.A82S
c.244G>T
1 paper
NM_002103.5
p.L91Q
c.272T>A
1 paper
NM_002103.5
p.G98R
c.292G>C
1 paper
NM_002103.5
p.N38I
c.113A>T
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