Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.A682V

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.A682V
c.2045C>T
Surrounding Variants
1 paper
NM_002103.5
p.K683E
c.2047A>G
1 paper
NM_002103.5
p.E679A
c.2036A>C
1 paper
NM_002103.5
p.R689C
c.2065C>T
2 papers
NM_002103.5
p.P691A
c.2071C>G
1 paper
NM_002103.5
p.E692Q
c.2074G>C
1 paper
NM_002103.5
p.R695C
c.2083C>T
1 paper
NM_002103.5
p.P667P
c.2001G>A
1 paper
NM_002103.5
p.T703ins1
c.2107_2108insAGG
1 paper
NM_002103.5
p.E658*
c.1972G>T
1 paper
NM_002103.5
p.S720G
c.2158A>G
1 paper
NM_002103.5
p.P728delFs
c.2184delG
1 paper
NM_002103.5
p.G633E
c.1898G>A
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