Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.F318L

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.F318L
c.952T>C
Surrounding Variants
1 paper
NM_021957.4
p.F318Y
c.953T>A
1 paper
NM_021957.4
p.F318L
c.954T>G
1 paper
NM_021957.4
p.F318L
c.954T>A
1 paper
NM_021957.4
p.K322fs
c.964_965fs
2 papers
NM_021957.4
p.K322_T323Fs
c.966_967delinsCFs
1 paper
NM_021957.4
p.K322_T323delFs
c.966_967delTC
1 paper
NM_021957.4
p.G314Splc
c.942-17G>A
1 paper
NM_021957.4
p.R331S
c.993G>T
1 paper
NM_021957.4
p.S335T
c.1003T>A
6 papers
NM_021957.4
p.A339P
c.1015G>C
1 paper
NM_021957.4
p.G314Splc
c.942-83T>G
1 paper
NM_021957.4
p.R354_M355Splc
c.1062+1G>T
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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."