Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.E518A

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
3 papers
NM_021957.4
p.E518A
c.1553A>C
Surrounding Variants
1 paper
NM_021957.4
p.T520fs
c.1558_1559fs
1 paper
NM_021957.4
p.C519_V527delFs
c.1557_1579del23
1 paper
NM_021957.4
p.T529K
c.1586C>A
1 paper
NM_021957.4
p.V542V
c.1626G>A
1 paper
NM_021957.4
p.P545S
c.1633C>T
2 papers
NM_021957.4
p.T546A
c.1636A>G
1 paper
NM_021957.4
p.Y548*
c.1644C>G
1 paper
NM_021957.4
p.Y548*
c.1644C>A
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.G549S
c.1645G>A
1 paper
NM_021957.4
p.T568N
c.1703C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."