Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.T568N

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.T568N
c.1703C>A
Surrounding Variants
3 papers
NM_021957.4
p.F574L
c.1720T>C
3 papers
NM_021957.4
p.F574L
c.1722T>G
3 papers
NM_021957.4
p.F574L
c.1722T>A
1 paper
NM_021957.4
p.Q577E
c.1729C>G
1 paper
NM_021957.4
p.R580C
c.1738C>T
2 papers
NM_021957.4
p.R582K
c.1745G>A
1 paper
NM_021957.4
p.I583V
c.1747A>G
1 paper
NM_021957.4
p.G549S
c.1645G>A
1 paper
NM_021957.4
p.G549Splc
c.1646-2A>G
1 paper
NM_021957.4
p.Y600F
c.1799A>T
1 paper
NM_021957.4
p.L601*
c.1802T>G
1 paper
NM_021957.4
p.L601*
c.1802T>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."