Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.P479Q

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.P479Q
c.1436C>A
Surrounding Variants
2 papers
NM_021957.4
p.S483P
c.1447T>C
1 paper
NM_021957.4
p.L488L
c.1464A>G
1 paper
NM_021957.4
p.L489I
c.1465C>A
3 papers
NM_021957.4
p.M491R
c.1472T>G
1 paper
NM_021957.4
p.E494*
c.1480G>T
1 paper
NM_021957.4
p.E495G
c.1484A>G
1 paper
NM_021957.4
p.G499D
c.1496G>A
1 paper
NM_021957.4
p.G499G
c.1497T>C
1 paper
NM_021957.4
p.C500*
c.1500T>A
1 paper
NM_021957.4
p.E510A
c.1529A>C
1 paper
NM_021957.4
p.G513R
c.1537G>C
3 papers
NM_021957.4
p.E518A
c.1553A>C
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."