Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.V152delFs

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.V152delFs
c.455delA
Surrounding Variants
1 paper
NM_002103.5
p.F154Y
c.461T>A
1 paper
NM_002103.5
p.G155D
c.464G>A
2 papers
NM_002103.5
p.D145H
c.433G>C
1 paper
NM_002103.5
p.P142L
c.425C>T
1 paper
NM_002103.5
p.L162_G163del2
c.484_488del6
1 paper
NM_002103.5
p.G140R
c.418G>A
2 papers
NM_002103.5
p.K130E
c.388A>G
1 paper
NM_002103.5
p.L116_A125delFs
c.348_373del26
1 paper
NM_002103.5
p.V115M
c.343G>A
1 paper
NM_002103.5
p.P112S
c.334C>T
1 paper
NM_002103.5
p.G185S
c.553G>A
1 paper
NM_002103.5
p.L188F
c.562C>T
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