Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.G314W

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.G314W
c.940G>T
Surrounding Variants
1 paper
NM_002103.5
p.F318Y
c.953T>A
1 paper
NM_002103.5
p.R331C
c.991C>T
1 paper
NM_002103.5
p.S335T
c.1003T>A
1 paper
NM_002103.5
p.F342F
c.1026C>T
1 paper
NM_002103.5
p.L349F
c.1045C>T
1 paper
NM_002103.5
p.N350T
c.1049A>C
1 paper
NM_002103.5
p.R354K
c.1061G>A
1 paper
NM_002103.5
p.G314W
c.940G>T
4 papers
NM_002103.5
p.R309Q
c.926G>A
1 paper
NM_002103.5
p.R309G
c.925C>G
1 paper
NM_002103.5
p.R303*
c.907C>T
1 paper
NM_002103.5
p.M290V
c.868A>G
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