Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.M244L

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.M244L
c.730A>T
Surrounding Variants
1 paper
NM_021957.4
p.M244L
c.730A>C
2 papers
NM_021957.4
p.M244K
c.731T>A
1 paper
NM_021957.4
p.C243*
c.729C>A
21 papers
NM_021957.4
p.R246*
c.736C>T
1 paper
NM_021957.4
p.H240L
c.719A>T
1 paper
NM_021957.4
p.H250Y
c.748C>T
1 paper
NM_021957.4
p.H253N
c.757C>A
1 paper
NM_021957.4
p.T257S
c.769A>T
1 paper
NM_021957.4
p.D275Splc
c.823+2T>C
1 paper
NM_021957.4
p.L224P
c.671T>C
1 paper
NM_021957.4
p.G210G
c.630G>A
1 paper
NM_021957.4
p.T203A
c.607A>G
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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."