Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.P442A

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
5 papers
NM_002103.5
p.P442A
c.1324C>G
Surrounding Variants
7 papers
NM_002103.5
p.R462*
c.1384C>T
6 papers
NM_002103.5
p.G464S
c.1390G>A
1 paper
NM_001161587.2
p.G400V
c.1199G>T
1 paper
NM_002103.5
p.G464A
c.1391G>C
1 paper
NM_002103.5
p.V475M
c.1423G>A
1 paper
NM_002103.5
p.P479L
c.1436C>T
15 papers
NM_002103.5
p.M416V
c.1246A>G
2 papers
NM_002103.5
p.V410Splc
c.1230-2A>G
2 papers
NM_002103.5
p.R402delFs
c.1204delT
1 paper
NM_002103.5
p.R402fs
c.1204_1205fs
1 paper
NM_002103.5
p.G401R
c.1201G>C
1 paper
NM_002103.5
p.G401R
c.1201G>A
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