Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.G141S

GYS2

127 papers

RefSeq Summary

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of t...

Pfam Domains

Glycogen_synaa 32–667UCSCGlycogen synthase

Gene Aliases

HGNC Name

glycogen synthase 2

HGNC Previous Name

glycogen synthase 2 (liver)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021957.4
p.G141S
c.421G>A
Surrounding Variants
1 paper
NM_021957.4
p.E136V
c.407A>T
1 paper
NM_021957.4
p.R147*
c.439C>T
1 paper
NM_021957.4
p.D151Y
c.451G>T
1 paper
NM_021957.4
p.D151N
c.451G>A
1 paper
NM_021957.4
p.M152delFs
c.455delA
1 paper
NM_021957.4
p.F155fs
c.463_464fs
1 paper
NM_021957.4
p.F155delFs
c.465delA
1 paper
NM_021957.4
p.V116_W125delFs
c.348_373del26
4 papers
NM_021957.4
p.E165_V166Splc
c.495+1G>T
2 papers
NM_021957.4
p.V115M
c.343G>A
1 paper
NM_021957.4
p.A177T
c.529G>A
9 papers
NM_021957.4
p.Q183*
c.547C>T
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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."