Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.L224P

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.L224P
c.671T>C
Surrounding Variants
1 paper
NM_002103.5
p.L224delFs
c.671delA
3 papers
NM_002103.5
p.N226_F227Splc
c.678+1G>C
2 papers
NM_002103.5
p.N226_F227Splc
c.678+1G>A
1 paper
NM_002103.5
p.G216S
c.646G>A
1 paper
NM_002103.5
p.A215V
c.644C>T
3 papers
NM_002103.5
p.G210G
c.630G>C
1 paper
NM_002103.5
p.R194Q
c.581G>A
1 paper
NM_002103.5
p.R192C
c.574C>T
1 paper
NM_002103.5
p.C191ins1
c.572_573insAAA
1 paper
NM_002103.5
p.C191S
c.572G>C
1 paper
NM_002103.5
p.L188F
c.562C>T
1 paper
NM_002103.5
p.G185S
c.553G>A
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