Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.G314Splc

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
1 paper
NM_021957.4
p.G314Splc
c.941+64A>G
Surrounding Variants
1 paper
NM_021957.4
p.G314Splc
c.942-83T>G
1 paper
NM_021957.4
p.G314Splc
c.941+1G>T
1 paper
NM_021957.4
p.G314Splc
c.941+1G>C
1 paper
NM_021957.4
p.Y313C
c.938A>G
1 paper
NM_021957.4
p.G310V
c.929G>T
1 paper
NM_021957.4
p.G310S
c.928G>A
2 papers
NM_021957.4
p.R309*
c.925C>T
1 paper
NM_021957.4
p.G314Splc
c.942-17G>A
1 paper
NM_021957.4
p.F293V
c.877T>G
1 paper
NM_021957.4
p.E292V
c.875A>T
1 paper
NM_021957.4
p.F318L
c.952T>C
1 paper
NM_021957.4
p.F318Y
c.953T>A
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