Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.H446D

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
2 papers
NM_021957.4
p.H446D
c.1336C>G
Surrounding Variants
5 papers
NM_021957.4
p.T445M
c.1334C>T
1 paper
NM_021957.4
p.T445R
c.1334C>G
1 paper
NM_021957.4
p.R462Q
c.1385G>A
1 paper
NM_021957.4
p.D471fs
c.1411_1412fs
1 paper
NM_021957.4
p.V473I
c.1417G>A
1 paper
NM_021957.4
p.D471_R472delFs
c.1413_1416del4
1 paper
NM_021957.4
p.K474_V475Splc
c.1422+23C>G
1 paper
NM_021957.4
p.Q436_R437Splc
c.1308+1G>A
1 paper
NM_021957.4
p.Q436P
c.1307A>C
1 paper
NM_021957.4
p.I432M
c.1296C>G
1 paper
NM_021957.4
p.D415E
c.1245C>G
1 paper
NM_021957.4
p.R410Splc
c.1229+11G>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."