Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.M363V

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
4 papers
NM_021957.4
p.M363V
c.1087A>G
Surrounding Variants
3 papers
NM_021957.4
p.T361delFs
c.1081delT
3 papers
NM_021957.4
p.T361fs
c.1081_1082fs
1 paper
NM_021957.4
p.T372insFs
c.1116dupA
1 paper
NM_021957.4
p.L380L
c.1140G>T
4 papers
NM_021957.4
p.G382E
c.1145G>A
1 paper
NM_021957.4
p.W390S
c.1169G>C
1 paper
NM_021957.4
p.W390Splc
c.1169+12A>T
1 paper
NM_021957.4
p.W390S
c.1169G>C
1 paper
NM_021957.4
p.F400L
c.1198T>C
1 paper
NM_021957.4
p.F400L
c.1200T>G
1 paper
NM_021957.4
p.F400L
c.1200T>A
1 paper
NM_021957.4
p.K403fs
c.1207_1208fs
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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."