Varaico: Literature-Extracted Genetic Variants

Gene:GYS1

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
1–12 of 110 variants
15 papers
NM_002103.5
p.M416V
c.1246A>G
7 papers
NM_002103.5
p.R462*
c.1384C>T
6 papers
NM_002103.5
p.G464S
c.1390G>A
5 papers
NM_002103.5
p.P442A
c.1324C>G
4 papers
NM_002103.5
p.R309Q
c.926G>A
3 papers
NM_002103.5
p.G210G
c.630G>C
3 papers
NM_002103.5
p.N226_F227Splc
c.678+1G>C
2 papers
NM_002103.5
p.Q71H
c.213G>T
2 papers
NM_002103.5
p.Q71H
c.213G>C
2 papers
NM_002103.5
p.K130E
c.388A>G
2 papers
NM_002103.5
p.D145H
c.433G>C
2 papers
NM_002103.5
p.N226_F227Splc
c.678+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."